A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585822



Internal ID6973342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41278144..41278838hg38UCSC Ensembl
Innerchr1:41278149..41278833hg38UCSC Ensembl
Outerchr1:41278139..41278843hg38UCSC Ensembl
chr1:41743816..41744510hg19UCSC Ensembl
Innerchr1:41743821..41744505hg19UCSC Ensembl
Outerchr1:41743811..41744515hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9917225, essv9917400, essv9917362, essv9917234, essv9917404, essv9917388, essv9917413, essv9917358, essv9917437, essv9917341, essv9917228, essv9917432, essv9917449, essv9917259, essv9917439, essv9917363, essv9917338, essv9917301, essv9917238, essv9917374, essv9917200, essv9917384, essv9917300, essv9917324, essv9917271, essv9917387, essv9917233, essv9917383, essv9917459, essv9917311, essv9917367, essv9917248, essv9917399, essv9917303, essv9917288, essv9917371, essv9917385, essv9917337, essv9917445, essv9917451, essv9917425, essv9917456, essv9917461, essv9917241, essv9917218, essv9917231, essv9917351, essv9917421, essv9917368, essv9917229, essv9917382, essv9917222, essv9917406, essv9917453, essv9917274, essv9917377, essv9917262, essv9917246, essv9917304, essv9917278, essv9917457, essv9917343, essv9917332, essv9917244, essv9917314, essv9917419, essv9917203, essv9917442, essv9917264, essv9917208, essv9917206, essv9917366, essv9917308, essv9917444, essv9917370, essv9917397, essv9917336, essv9917299, essv9917317, essv9917252, essv9917378, essv9917309, essv9917334, essv9917447, essv9917330, essv9917224, essv9917417, essv9917380, essv9917270, essv9917214, essv9917435, essv9917357, essv9917391, essv9917361, essv9917273, essv9917424, essv9917402, essv9917349, essv9917237, essv9917430, essv9917375, essv9917223, essv9917221, essv9917454, essv9917458, essv9917376, essv9917365, essv9917364, essv9917256, essv9917410, essv9917205, essv9917359, essv9917322, essv9917450, essv9917420, essv9917403, essv9917220, essv9917250, essv9917328, essv9917390, essv9917316, essv9917431, essv9917254, essv9917409, essv9917422, essv9917414, essv9917284, essv9917426, essv9917448, essv9917434, essv9917339, essv9917313, essv9917306, essv9917452, essv9917440, essv9917428, essv9917202, essv9917354, essv9917455, essv9917360, essv9917230, essv9917438, essv9917396, essv9917423, essv9917395, essv9917460, essv9917411, essv9917209, essv9917217, essv9917281, essv9917443, essv9917294, essv9917272, essv9917212, essv9917282, essv9917427, essv9917276, essv9917436, essv9917389, essv9917289, essv9917393, essv9917283, essv9917236, essv9917429, essv9917401, essv9917298, essv9917329, essv9917293, essv9917441, essv9917251, essv9917352, essv9917433, essv9917323, essv9917249, essv9917412, essv9917312, essv9917257, essv9917275, essv9917287, essv9917199, essv9917350, essv9917280, essv9917392, essv9917315, essv9917210, essv9917344, essv9917318, essv9917216, essv9917416, essv9917268, essv9917263, essv9917260, essv9917232, essv9917386, essv9917296, essv9917240, essv9917213, essv9917255, essv9917373, essv9917321, essv9917226, essv9917372, essv9917335, essv9917211, essv9917295, essv9917355, essv9917340, essv9917201, essv9917290, essv9917346, essv9917418, essv9917215, essv9917219, essv9917405, essv9917369, essv9917345, essv9917379, essv9917327, essv9917227, essv9917319, essv9917307, essv9917398, essv9917253, essv9917320, essv9917394, essv9917291, essv9917347, essv9917242, essv9917279, essv9917292, essv9917342, essv9917207, essv9917277, essv9917415, essv9917204, essv9917408, essv9917407, essv9917331, essv9917310, essv9917285, essv9917326, essv9917325, essv9917266, essv9917258, essv9917235, essv9917286, essv9917353, essv9917245, essv9917356, essv9917302, essv9917297, essv9917269, essv9917247, essv9917265, essv9917243, essv9917348, essv9917305, essv9917333, essv9917446, essv9917267, essv9917261, essv9917239, essv9917381
SamplesHG02574, HG01485, HG02944, HG02481, NA19909, HG03052, NA18508, HG03175, HG03111, NA19378, HG03517, HG03247, HG03300, HG02419, HG02804, NA19355, HG03455, NA18878, HG03515, HG03193, NA20359, NA19107, HG03133, HG03168, NA19315, NA20320, HG03091, NA18923, NA19457, HG02054, NA20287, HG03040, NA19904, NA20291, HG02562, HG01069, HG03520, NA18868, HG02634, NA19372, HG03045, NA19172, HG03380, NA19239, HG02545, NA20355, HG03073, NA20342, NA20318, NA19027, HG02879, HG02479, HG02943, HG02820, HG03363, HG03088, HG02678, NA19184, HG02449, HG01882, HG03457, HG02144, HG02887, HG03575, NA18871, HG03081, HG02508, HG02878, NA18907, NA19461, HG02577, NA19042, HG03024, NA19099, HG02256, NA19318, HG02332, HG02635, NA19395, HG02594, NA19017, NA19375, HG02330, NA19440, NA18517, HG03437, NA19434, NA19019, HG02546, HG02308, HG02721, HG03458, HG03117, HG02982, HG03469, HG02941, NA19428, NA19324, HG02558, HG02771, HG03157, HG01912, NA19474, NA19093, HG03060, HG02768, NA19102, NA18873, NA18876, HG03077, NA19430, HG02855, HG01756, NA19316, NA19312, NA19463, NA19429, NA19346, NA19431, HG02339, NA19141, NA19700, NA19397, HG03163, HG02973, NA19332, NA20274, HG02318, HG01188, NA18917, NA18877, HG03558, NA20321, NA18486, HG02476, NA19393, HG03100, HG03518, HG03297, HG03139, HG03172, NA19190, NA19314, HG02895, HG03095, HG03086, HG03099, HG03135, HG02325, NA19198, NA20317, HG02620, NA19916, NA19197, HG03246, NA19023, NA19138, NA18498, HG02111, HG02281, HG03460, HG03556, HG03268, HG02461, NA19385, NA19317, HG02471, NA19189, NA18520, NA19209, HG03055, NA18908, HG03114, HG02882, HG02715, NA19451, NA19200, HG03270, HG02819, HG02009, HG03120, HG02439, NA19247, NA19210, NA18934, HG02582, HG03291, HG02511, NA19913, HG02554, HG02450, HG02953, HG01989, HG02497, HG02470, HG02976, HG02537, NA19776, HG03124, HG03294, HG02555, HG03085, HG01161, NA19114, NA19118, HG03136, HG03476, HG03202, NA18499, HG03078, NA18856, HG02884, NA20282, HG03391, HG03354, NA19095, HG03109, NA19436, NA19035, HG03567, NA20296, HG02613, HG02455, NA19206, HG03028, HG02807, NA18909, HG02759, HG03367, NA19473, HG01894, NA19435, NA19037, HG01958, HG02837, HG03127, NA19439, NA19310, HG03108, NA19376, NA19323, NA19143, NA19248, HG02974, HG03442, NA19438, HG02938, HG02053, HG03410, HG02679, NA19096, HG03538, HG02052, HG02051, HG01883, HG03162, NA18505, NA18488, HG03376, HG02284, HG02808, HG03118, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585822
Frequency
Sample Size2504
Observed Gain0
Observed Loss263
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer