A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657525



Internal ID9576944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229092053..229092238hg38UCSC Ensembl
chr2:229956769..229956954hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6169602, essv6135086, essv5402507, essv6049916, essv6301749, essv5643466, essv6070249, essv5838617, essv6219317, essv6062218, essv5977756, essv6473691, essv6112798, essv6523816, essv6184553, essv6409978, essv6005547, essv5529329, essv6339681, essv6471255, essv5920138, essv5983785, essv6133047, essv6247576, essv6176542, essv6298918, essv6244858, essv5786121, essv5543613, essv5980696, essv6491481, essv6202136, essv6571139, essv5741482, essv6452854, essv6520494, essv5613401, essv5687292, essv6262216, essv6578124, essv5599555, essv6406611, essv6514028, essv6374682, essv6251823, essv6500126, essv5676680, essv5776380, essv5655663, essv6359027, essv6418277, essv5457682, essv6081740, essv6302321, essv5854628, essv6350897, essv6427616, essv5801656, essv5609182, essv5452274, essv6083544, essv5824672, essv5463015, essv6565841, essv5892989, essv6375402, essv6492619, essv6022280, essv5476168, essv5960632, essv6074955, essv6369319, essv6023877, essv5409094, essv5521605, essv5546360, essv6000661, essv6160543, essv5526161, essv5596168, essv6513998, essv5491361, essv5419526, essv6127927, essv5916424, essv6579173, essv5717567, essv6589604, essv6464729, essv6235020, essv5467530, essv5770099, essv6403079, essv5658275, essv6282418, essv5950760, essv5696824, essv5746497, essv6197960, essv6507729, essv6049601, essv6103944, essv5535632, essv6067488, essv6360811, essv5607078, essv6576089, essv5908650, essv6074518, essv5761310, essv6455430, essv6195380, essv5457156, essv5860130, essv5861692, essv6526396, essv5425669, essv5434084, essv6113116, essv6149852, essv6041526, essv6345104, essv6532640, essv6301260, essv5930118, essv6465442, essv6388098, essv6143560, essv6411368, essv5727224, essv6283578, essv6499633, essv5922154, essv6031059, essv5696565, essv5897675, essv5918683, essv6367455, essv6547110, essv5825836, essv6546452, essv5984639, essv5496323, essv6215531, essv5525343, essv6346388, essv5537924, essv5878701, essv5884698, essv5689324, essv6180046, essv5611487, essv5967357, essv6041012, essv6594854, essv6480679, essv6487228, essv5450316, essv5917088, essv6427459, essv6286934, essv6312489, essv6318837, essv5826614, essv6411214, essv6389556, essv5758766, essv5877859, essv5642833, essv6093411, essv5956814, essv6095397, essv6543502, essv5690407, essv6347207, essv6438696, essv5880144, essv6191719, essv6408194, essv6351970, essv6230916, essv6540308
SamplesNA19012, NA19137, NA19248, NA19312, NA12489, NA19625, HG00537, NA18861, NA19436, NA18605, NA18520, NA18595, HG00619, NA18530, NA18630, NA18871, NA19819, NA12342, NA19404, HG01055, NA18523, NA19114, NA18874, NA11920, HG01083, HG00731, NA18501, NA19401, NA20535, NA19469, NA18511, NA19223, NA19455, NA19435, NA10847, NA20296, NA19430, NA19670, NA19359, NA19334, HG00189, HG01492, NA19331, HG01488, NA20529, NA20342, NA19920, HG00553, NA19461, NA18507, NA19257, HG00578, NA19108, NA19701, NA18488, NA19355, NA19474, NA19780, NA19472, NA18873, NA19147, NA18868, NA20770, HG00635, NA19463, NA11919, NA18912, NA20356, NA19390, NA19675, NA18576, NA19197, NA19443, NA19900, NA19107, NA19444, HG01061, NA20530, HG01495, NA19396, NA19088, HG00628, NA19397, HG00330, NA19429, NA19440, NA19908, NA18959, NA18547, NA19985, NA19256, HG01113, NA18637, NA19835, NA20282, HG00264, NA19679, NA12234, NA19700, NA19316, HG00662, NA19190, NA19213, NA20769, NA19247, NA19360, HG00159, NA19313, NA19377, NA19380, HG01437, NA19395, NA19080, NA19129, NA19172, NA19189, NA12892, NA18572, HG01066, NA20348, NA19373, NA19384, NA12348, NA19716, NA20795, NA18486, NA19238, NA18510, HG00176, HG00260, NA19713, NA18504, NA19704, NA18487, NA18858, NA18961, NA20542, NA20582, NA20766, NA19328, NA19382, NA18579, NA19235, NA12891, NA18597, HG00590, NA18552, NA19138, NA18907, NA20332, NA18867, NA19403, NA20289, NA19719, NA19434, NA19099, NA19446, HG01390, NA18548, HG01464, NA19225, NA19399, NA18499, NA18924, NA19371, NA19130, NA19240, NA19346, HG00641, NA18574, HG00473, HG01462, NA19381, NA18615, NA19758, HG00345, NA19092, HG00704, NA19385, NA19456, NA07000, NA19439
Known GenesPID1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657525
Frequency
Sample Size1151
Observed Gain0
Observed Loss182
Observed Complex0
Frequencyn/a


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