A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660782



Internal ID4705116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105467816..105472622hg19UCSC Ensembl
Outerchr2:105467445..105472992hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6084738, essv6191806, essv6286887, essv5502696, essv6532647, essv5948720, essv6485826, essv6579691, essv5729851, essv6253104, essv6527486, essv6567199, essv6052025, essv5593341, essv6539645, essv6521500, essv5624743, essv5517526, essv6594293, essv5649130, essv6380110, essv6483880, essv5705724, essv6105087, essv5972581, essv6562461, essv5681224, essv5453297, essv5906693, essv5486416, essv6429160, essv6054257, essv6160387, essv6431834, essv5635331, essv6424471, essv6567085, essv5900929, essv5423895, essv5823627, essv6397724, essv6311323, essv5744643, essv6474412, essv5683948, essv6554440, essv5636038, essv6486886, essv5780457, essv5419886, essv6431937, essv6228058, essv5774105, essv6096402, essv5908321, essv5733544, essv5397140, essv5743914, essv5711505, essv5729155, essv5574540, essv5894672, essv5401837, essv6388264, essv6581876, essv5881079, essv6255934, essv5583973, essv6392463, essv6370800, essv6181032, essv6525352, essv6318485, essv5982812, essv6445783, essv5829571, essv6447484, essv6557112, essv6105141, essv6486621, essv6153861, essv5647719, essv5939759, essv6152614, essv6157064, essv5849492, essv5479752, essv5593654, essv6135081, essv5664318, essv5647890
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00596, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00577, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00592, HG00635, HG00543, HG00556, HG00593, HG00472, HG00421, HG00583, HG00610, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00560, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00566, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesLOC100506421, POU3F3
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660782
Frequency
Sample Size1151
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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