A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589561



Internal ID6629850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248650030..248662535hg38UCSC Ensembl
chr1:248813331..248825836hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812506
hg1912506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10379481, essv10379118, essv10379336, essv10379277, essv10379174, essv10379359, essv10379482, essv10379444, essv10379527, essv10379167, essv10379224, essv10379432, essv10379311, essv10379422, essv10379345, essv10379523, essv10379119, essv10379263, essv10379305, essv10379367, essv10379459, essv10379547, essv10379566, essv10379339, essv10379541, essv10379396, essv10379126, essv10379491, essv10379328, essv10379317, essv10379369, essv10379383, essv10379300, essv10379362, essv10379152, essv10379471, essv10379198, essv10379571, essv10379206, essv10379402, essv10379350, essv10379244, essv10379330, essv10379504, essv10379535, essv10379130, essv10379292, essv10379301, essv10379163, essv10379418, essv10379398, essv10379351, essv10379237, essv10379208, essv10379212, essv10379548, essv10379100, essv10379401, essv10379460, essv10379226, essv10379357, essv10379110, essv10379103, essv10379166, essv10379299, essv10379217, essv10379264, essv10379216, essv10379184, essv10379256, essv10379453, essv10379309, essv10379260, essv10379423, essv10379540, essv10379531, essv10379219, essv10379180, essv10379239, essv10379533, essv10379565, essv10379295, essv10379322, essv10379143, essv10379399, essv10379448, essv10379537, essv10379153, essv10379551, essv10379164, essv10379579, essv10379288, essv10379555, essv10379156, essv10379203, essv10379229, essv10379466, essv10379298, essv10379315, essv10379393, essv10379133, essv10379500, essv10379141, essv10379542, essv10379155, essv10379463, essv10379297, essv10379386, essv10379165, essv10379556, essv10379278, essv10379365, essv10379170, essv10379509, essv10379428, essv10379521, essv10379101, essv10379498, essv10379557, essv10379172, essv10379510, essv10379125, essv10379255, essv10379413, essv10379580, essv10379320, essv10379193, essv10379214, essv10379543, essv10379283, essv10379425, essv10379325, essv10379337, essv10379197, essv10379233, essv10379183, essv10379397, essv10379189, essv10379544, essv10379285, essv10379303, essv10379296, essv10379191, essv10379420, essv10379446, essv10379452, essv10379262, essv10379494, essv10379265, essv10379347, essv10379385, essv10379364, essv10379161, essv10379552, essv10379344, essv10379476, essv10379424, essv10379293, essv10379308, essv10379178, essv10379327, essv10379356, essv10379182, essv10379355, essv10379258, essv10379372, essv10379117, essv10379352, essv10379202, essv10379408, essv10379442, essv10379532, essv10379435, essv10379111, essv10379116, essv10379450, essv10379319, essv10379335, essv10379524, essv10379560, essv10379205, essv10379443, essv10379254, essv10379332, essv10379561, essv10379570, essv10379575, essv10379431, essv10379518, essv10379310, essv10379530, essv10379115, essv10379159, essv10379257, essv10379106, essv10379158, essv10379377, essv10379409, essv10379132, essv10379236, essv10379414, essv10379140, essv10379247, essv10379388, essv10379429, essv10379445, essv10379204, essv10379231, essv10379250, essv10379272, essv10379162, essv10379235, essv10379326, essv10379467, essv10379477, essv10379105, essv10379392, essv10379578, essv10379462, essv10379150, essv10379368, essv10379404, essv10379395, essv10379120, essv10379232, essv10379354, essv10379210, essv10379381, essv10379507, essv10379370, essv10379474, essv10379514, essv10379109, essv10379447, essv10379294, essv10379376, essv10379279, essv10379316, essv10379440, essv10379538, essv10379562, essv10379348, essv10379553, essv10379137, essv10379168, essv10379519, essv10379433, essv10379128, essv10379129, essv10379334, essv10379545, essv10379181, essv10379228, essv10379290, essv10379349, essv10379439, essv10379520, essv10379546, essv10379342, essv10379102, essv10379253, essv10379564, essv10379242, essv10379526, essv10379577, essv10379318, essv10379360, essv10379331, essv10379267, essv10379221, essv10379441, essv10379522, essv10379187, essv10379343, essv10379312, essv10379473, essv10379112, essv10379114, essv10379154, essv10379324, essv10379410, essv10379149, essv10379394, essv10379306, essv10379475, essv10379241, essv10379142, essv10379358, essv10379415, essv10379380, essv10379513, essv10379511, essv10379200, essv10379390, essv10379196, essv10379136, essv10379246, essv10379329, essv10379438, essv10379384, essv10379470, essv10379249, essv10379248, essv10379201, essv10379107, essv10379147, essv10379437, essv10379456, essv10379436, essv10379461, essv10379465, essv10379496, essv10379124, essv10379194, essv10379131, essv10379230, essv10379568, essv10379483, essv10379139, essv10379363, essv10379121, essv10379314, essv10379472, essv10379177, essv10379186, essv10379199, essv10379245, essv10379497, essv10379528, essv10379536, essv10379157, essv10379220, essv10379515, essv10379499, essv10379403, essv10379506, essv10379549, essv10379449, essv10379188, essv10379455, essv10379434, essv10379144, essv10379501, essv10379366, essv10379273, essv10379554, essv10379138, essv10379243, essv10379192, essv10379406, essv10379113, essv10379222, essv10379261, essv10379517, essv10379569, essv10379492, essv10379412, essv10379151, essv10379268, essv10379454, essv10379469, essv10379529, essv10379486, essv10379251, essv10379361, essv10379270, essv10379457, essv10379281, essv10379179, essv10379171, essv10379223, essv10379421, essv10379479, essv10379269, essv10379512, essv10379190, essv10379252, essv10379576, essv10379123, essv10379550, essv10379209, essv10379567, essv10379478, essv10379451, essv10379516, essv10379271, essv10379284, essv10379485, essv10379175, essv10379276, essv10379176, essv10379379, essv10379259, essv10379287, essv10379323, essv10379464, essv10379302, essv10379341, essv10379195, essv10379282, essv10379502, essv10379539, essv10379468, essv10379321, essv10379417, essv10379146, essv10379389, essv10379563, essv10379211, essv10379489, essv10379240, essv10379185, essv10379572, essv10379559, essv10379333, essv10379490, essv10379391, essv10379505, essv10379405, essv10379148, essv10379274, essv10379430, essv10379480, essv10379104, essv10379503, essv10379213, essv10379493, essv10379307, essv10379407, essv10379495, essv10379215, essv10379375, essv10379378, essv10379234, essv10379373, essv10379411, essv10379135, essv10379218, essv10379416, essv10379145, essv10379487, essv10379280, essv10379313, essv10379387, essv10379426, essv10379225, essv10379484, essv10379160, essv10379346, essv10379458, essv10379238, essv10379488, essv10379573, essv10379353, essv10379122, essv10379173, essv10379508, essv10379558, essv10379207, essv10379275, essv10379427, essv10379227, essv10379134, essv10379169, essv10379374, essv10379108, essv10379266, essv10379534, essv10379304, essv10379289, essv10379286, essv10379340, essv10379338, essv10379419, essv10379525, essv10379574, essv10379400, essv10379127, essv10379291, essv10379371, essv10379382
SamplesHG02470, HG02879, HG03136, NA19146, HG02808, HG02496, HG03135, HG02317, HG02107, NA19312, HG03120, HG02882, HG03354, HG02810, HG03567, NA19031, NA19712, HG02675, HG03279, HG02330, HG03064, HG03351, HG01896, HG02298, HG03479, NA18871, HG01519, HG01988, NA19437, HG01089, NA19114, HG01882, HG03563, HG01444, NA18501, NA19093, HG02334, HG03129, HG01885, NA20346, HG03086, HG02223, HG03247, HG02419, HG02450, NA19319, HG03189, HG03452, NA18516, HG03133, NA19923, HG03419, NA19788, NA18517, HG02722, HG02946, HG03571, HG01915, HG03311, NA19449, NA20362, HG02010, NA19920, HG02508, HG03111, NA19019, HG00139, HG02977, HG03432, HG03458, NA19144, NA19379, HG02471, HG02497, HG03099, HG02676, HG01958, HG02322, NA19378, HG02274, HG02817, HG01101, NA19257, HG02613, HG03380, NA19236, HG03199, HG03268, HG03378, HG03109, HG03039, NA19037, HG02973, HG03049, NA18868, NA19143, HG02982, HG02585, HG03558, NA19028, HG03162, HG02420, HG02588, HG03088, HG01148, HG03461, NA19239, NA19314, HG03193, HG03575, NA19390, HG02646, NA19309, HG01305, NA19917, HG02568, NA19107, HG02772, HG01183, HG02012, HG03559, HG03439, HG01124, NA19096, HG02667, NA19429, NA19908, HG03052, HG03464, HG03520, HG03130, HG02143, HG01879, NA18916, HG03079, NA19457, HG01247, NA19700, HG01986, NA19042, NA19324, HG02757, NA19190, HG03169, NA19380, HG03085, HG03126, NA19395, HG02449, NA19372, HG03040, HG03391, NA19374, HG03397, HG02541, HG03473, NA19102, HG02922, HG03547, HG02337, NA18510, NA19119, HG02573, HG02623, HG02807, HG02429, HG03168, HG02938, HG03096, HG03366, HG02511, NA18878, HG00740, HG03072, HG03073, HG02852, HG02307, HG02571, NA19328, NA18910, HG03577, NA19711, HG03118, HG01077, NA19141, HG02339, HG02624, HG02881, HG03132, HG03385, HG03028, HG02484, NA19138, NA19376, HG02819, NA18909, NA19391, NA19201, HG02645, NA20276, NA19025, HG03045, HG03246, NA19116, HG03267, NA19431, HG03172, HG02628, NA20318, HG03078, NA19818, HG01390, NA18879, NA20317, HG00285, HG02702, HG03074, HG01164, HG03258, NA18499, HG01912, HG03139, NA20359, HG02476, HG03077, NA19916, HG03270, HG02721, NA20792, HG03060, NA19095, HG02642, NA19171, HG03557, HG01985, HG03271, HG03388, NA19204, NA19113, HG01462, HG02555, HG02620, NA18908, NA19473, HG02051, NA19185, HG02013, HG02505, NA19092, HG02860, NA18881, NA19200, NA19385, HG02855, HG02820, HG03460, NA19121, NA19466, NA20339, HG02769, HG03095, NA19439, HG02839, HG03082, HG03163, HG02580, HG02666, HG03370, NA20281, HG02890, NA19137, NA19913, HG02477, HG03058, NA19152, NA19445, HG00734, NA18861, NA19436, HG01241, HG02621, HG02970, HG03521, HG03280, HG01130, NA18933, NA19404, HG03084, HG03342, HG02546, HG02816, HG03112, HG03437, HG02284, HG02799, HG03410, NA19310, HG03055, HG03066, HG03304, HG00736, HG02759, HG03196, NA19149, HG00261, HG02318, NA19455, HG02006, NA20294, HG03301, HG03313, HG02979, NA19430, HG02943, NA19317, HG01085, HG02974, NA18877, HG02014, HG01956, NA19451, HG03212, HG02885, HG02887, HG01883, NA19184, HG02314, NA19834, NA19017, HG03548, HG03538, HG03765, NA19108, HG01990, HG03485, NA18488, NA19355, NA19474, HG02433, HG03394, HG02583, NA19308, HG01551, NA19147, HG01504, HG03457, HG03159, NA19438, NA19654, NA19043, HG03376, HG02895, NA19117, HG02836, HG02053, NA19428, HG02981, NA18912, NA19982, HG03470, NA18934, NA18508, HG02634, NA20356, NA21088, HG02009, HG00332, HG03202, NA19900, NA19020, NA19792, HG02968, HG03578, HG02703, HG03436, NA18856, HG02861, HG03241, NA19351, NA19440, HG02763, HG03445, HG02851, HG03583, HG03024, HG03100, HG03539, NA20282, HG03565, HG03166, HG03063, HG02283, HG02888, HG03225, HG01948, HG02840, NA19377, HG02442, HG03190, NA19172, NA19375, NA19393, NA20126, HG01989, HG02562, HG03455, NA18498, NA18923, HG01914, NA18522, HG02594, HG02804, HG03472, NA19098, NA19901, HG02611, HG03097, HG03514, HG02343, HG02971, NA18504, NA19704, NA18858, HG02111, NA19347, NA19332, NA19909, HG03069, HG03428, NA19707, HG02545, NA19131, NA19159, HG03291, HG02052, HG02479, HG03297, HG02614, NA19462, HG03115, HG03175, HG02345, HG03352, HG02309, HG03108, HG03446, NA19038, NA20534, NA20357, HG02923, HG03499, NA18915, NA20332, NA18867, NA19394, NA19403, HG03061, HG02629, HG03556, NA19434, HG03198, HG02481, NA19099, NA19446, HG02561, NA19452, HG03476, HG02489, HG03081, HG02465, HG02589, HG02837, NA19327, NA18917, HG01886, NA19399, HG02678, HG02679, HG02464, HG03025, HG03369
Known GenesOR2T27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589561
Frequency
Sample Size2504
Observed Gain481
Observed Loss0
Observed Complex0
Frequencyn/a


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