A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585888



Internal ID6626202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555551..44556639hg38UCSC Ensembl
Innerchr1:44555556..44556634hg38UCSC Ensembl
Outerchr1:44555546..44556644hg38UCSC Ensembl
chr1:45021223..45022311hg19UCSC Ensembl
Innerchr1:45021228..45022306hg19UCSC Ensembl
Outerchr1:45021218..45022316hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925444, essv9925230, essv9925175, essv9925321, essv9925239, essv9925326, essv9925228, essv9925354, essv9925325, essv9925168, essv9925312, essv9925296, essv9925213, essv9925398, essv9925222, essv9925399, essv9925181, essv9925384, essv9925224, essv9925408, essv9925189, essv9925289, essv9925360, essv9925416, essv9925286, essv9925220, essv9925355, essv9925249, essv9925450, essv9925283, essv9925184, essv9925455, essv9925172, essv9925411, essv9925242, essv9925467, essv9925470, essv9925379, essv9925406, essv9925410, essv9925363, essv9925335, essv9925206, essv9925255, essv9925238, essv9925203, essv9925427, essv9925204, essv9925214, essv9925419, essv9925298, essv9925428, essv9925323, essv9925446, essv9925212, essv9925276, essv9925229, essv9925331, essv9925463, essv9925327, essv9925405, essv9925173, essv9925280, essv9925370, essv9925225, essv9925169, essv9925305, essv9925409, essv9925436, essv9925460, essv9925358, essv9925466, essv9925459, essv9925397, essv9925434, essv9925432, essv9925442, essv9925345, essv9925196, essv9925339, essv9925353, essv9925439, essv9925284, essv9925231, essv9925469, essv9925317, essv9925195, essv9925270, essv9925367, essv9925387, essv9925243, essv9925248, essv9925462, essv9925356, essv9925257, essv9925318, essv9925341, essv9925423, essv9925359, essv9925200, essv9925337, essv9925245, essv9925413, essv9925218, essv9925381, essv9925340, essv9925233, essv9925261, essv9925451, essv9925374, essv9925438, essv9925272, essv9925400, essv9925237, essv9925226, essv9925392, essv9925306, essv9925170, essv9925333, essv9925221, essv9925456, essv9925372, essv9925250, essv9925448, essv9925365, essv9925328, essv9925300, essv9925185, essv9925263, essv9925294, essv9925457, essv9925350, essv9925273, essv9925373, essv9925177, essv9925260, essv9925352, essv9925182, essv9925178, essv9925262, essv9925320, essv9925394, essv9925344, essv9925329, essv9925412, essv9925197, essv9925217, essv9925302, essv9925269, essv9925390, essv9925465, essv9925349, essv9925383, essv9925290, essv9925386, essv9925371, essv9925171, essv9925388, essv9925311, essv9925361, essv9925207, essv9925232, essv9925179, essv9925244, essv9925472, essv9925464, essv9925267, essv9925441, essv9925357, essv9925445, essv9925309, essv9925453, essv9925215, essv9925209, essv9925265, essv9925393, essv9925418, essv9925336, essv9925188, essv9925282, essv9925313, essv9925378, essv9925468, essv9925334, essv9925368, essv9925227, essv9925240, essv9925264, essv9925426, essv9925471, essv9925322, essv9925274, essv9925219, essv9925375, essv9925277, essv9925301, essv9925235, essv9925351, essv9925247, essv9925268, essv9925299, essv9925315, essv9925391, essv9925253, essv9925310, essv9925288, essv9925396, essv9925192, essv9925403, essv9925346, essv9925366, essv9925278, essv9925347, essv9925380, essv9925430, essv9925452, essv9925287, essv9925281, essv9925435, essv9925342, essv9925183, essv9925251, essv9925385, essv9925402, essv9925395, essv9925316, essv9925193, essv9925364, essv9925266, essv9925303, essv9925421, essv9925258, essv9925449, essv9925376, essv9925422, essv9925198, essv9925285, essv9925174, essv9925307, essv9925443, essv9925186, essv9925417, essv9925271, essv9925201, essv9925431, essv9925314, essv9925415, essv9925205, essv9925319, essv9925330, essv9925420, essv9925187, essv9925279, essv9925414, essv9925447, essv9925256, essv9925401, essv9925191, essv9925190, essv9925180, essv9925332, essv9925199, essv9925295, essv9925440, essv9925454, essv9925259, essv9925223, essv9925324, essv9925362, essv9925433, essv9925304, essv9925202, essv9925236, essv9925292, essv9925293, essv9925246, essv9925348, essv9925176, essv9925308, essv9925424, essv9925458, essv9925254, essv9925216, essv9925208, essv9925291, essv9925241, essv9925377, essv9925461, essv9925389, essv9925211, essv9925297, essv9925382, essv9925404, essv9925252, essv9925437, essv9925210, essv9925343, essv9925234, essv9925369, essv9925338, essv9925194, essv9925425, essv9925407, essv9925429, essv9925275
SamplesHG02140, HG01878, NA19012, NA18621, NA19207, HG02317, HG02250, HG02882, HG02810, HG03567, HG03279, NA18616, NA18534, NA19081, NA19114, HG00500, HG01882, NA20510, HG00464, HG00565, HG00457, HG02088, HG01927, NA18545, HG01031, HG03189, HG03057, HG03452, NA18516, NA19334, HG03419, NA19788, NA19331, NA18517, NA19795, NA19010, HG01883, HG02508, HG02105, NA19019, HG02379, NA18541, NA19461, HG02020, HG03103, NA18963, NA19320, HG02817, HG03548, HG01861, NA19682, HG03485, HG04094, HG02685, HG03714, HG03378, NA19084, HG01860, HG01348, HG03039, NA19472, NA18625, NA18873, NA18596, HG01812, HG02982, HG00543, HG02259, HG02585, HG02081, HG03846, NA19062, HG02053, NA19463, NA19067, HG02981, HG03461, NA18912, HG03470, NA18998, NA18624, NA18508, NA19239, HG03193, HG03575, HG04144, HG03451, NA19059, NA20356, HG02462, HG03779, HG01028, HG03300, NA18957, NA19309, NA18635, NA19057, HG01865, NA19443, HG02142, HG02554, NA19471, NA19900, HG00759, NA19011, HG03578, NA18641, HG00728, HG00692, HG01088, HG02012, HG03442, HG00689, NA18592, NA18856, HG01815, HG01795, HG02557, HG02643, NA19351, HG02016, HG02410, NA19066, HG03464, HG00178, HG00419, HG02851, HG03583, HG01360, NA19256, HG02028, NA18637, NA18973, NA18982, HG00403, HG00982, HG03166, NA18634, NA19086, HG01599, NA19042, NA18539, HG02076, NA19055, HG02392, HG00844, NA19247, NA19360, NA19377, HG02151, HG02131, HG01600, NA18645, NA19129, NA19172, NA19189, HG00653, HG03391, NA19374, HG03397, HG01989, HG02178, NA19384, HG01806, HG03854, NA19716, NA18486, NA19102, NA19002, HG02807, HG02401, HG03849, HG02031, HG03514, NA18748, NA18564, NA18942, NA18961, NA19347, HG02511, NA19332, NA19909, HG02087, HG03157, HG00599, HG02545, NA19131, NA21095, HG03297, NA19307, HG02180, HG02085, HG02190, HG00674, HG02406, NA18543, NA18940, HG02484, HG00445, HG02281, HG03446, NA18597, NA19038, NA19376, HG02128, HG03303, HG00443, HG02819, NA19035, NA19391, NA19078, NA19201, NA20332, HG01801, HG02154, NA18538, HG01872, HG02134, HG02629, NA19741, HG03556, NA20274, HG00409, NA19719, NA18544, HG03198, HG01485, HG02589, NA19225, HG02408, HG02891, HG03074, HG02464, HG03607, NA18499, NA18571, NA19006, HG00708, HG03077, NA19916, HG01251, NA19118, HG00623, HG03060, HG03449, HG03557, HG00641, NA18532, NA18574, NA18853, HG03012, HG01462, HG02315, HG03515, NA19473, NA18615, HG02051, HG00476, HG02013, HG02505, HG00622, HG01807, NA19092, NA21091, HG02064, NA19200, NA19007, NA19661, HG02095, HG04182, HG02820, HG02130, HG03095, NA18553, HG01870, HG03163, HG03370, HG03684, HG02427, HG00881, HG01813, HG03058, NA19625, NA21142, HG02621, NA19321, HG02138, HG01052, HG03342, NA18975, HG01046, NA18874, HG00675, HG02983, HG03410, HG01858, HG01944, HG03693, HG03055, HG01849, NA19090, NA18550, NA19072, HG02006, NA19317
Known GenesRNF220
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585888
Frequency
Sample Size2504
Observed Gain0
Observed Loss305
Observed Complex0
Frequencyn/a


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