A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2666529

Internal ID9585948
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5492282..5492520hg38UCSC Ensembl
chr18:5492281..5492519hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5437302, essv5950273, essv6368228, essv6146465, essv5708829, essv5641282, essv5735816, essv5691463, essv5434983, essv5620791, essv6381238, essv5447785, essv6166127, essv6454021, essv5661736, essv5710548, essv6337330, essv5864683, essv6066613, essv6528013, essv6161203, essv5427585, essv5932366, essv5552531, essv5595337, essv5556353, essv5607567, essv5782376, essv5967926, essv5991288, essv6081063, essv5679632, essv5813581, essv6197834, essv6458573, essv5856748, essv6540549, essv6520438, essv5787380, essv5472541, essv5508881, essv5987321, essv6351916, essv6377919, essv5609643, essv6300999, essv6004974, essv5489191, essv6253456, essv6339539, essv6150472, essv6078199, essv5748012, essv5483802, essv6204738, essv5933090, essv6548196, essv5426504, essv6438920, essv5450837, essv5533640, essv5935378, essv5810385, essv6303500, essv5919284, essv5923394, essv5585781, essv6212158, essv6414910, essv6208774, essv6385344, essv6267667, essv5596318, essv5661302, essv6031311, essv5417263, essv6015930, essv6058125, essv5414978, essv6307868, essv6259339, essv6017840, essv5435781, essv6484526, essv5639962, essv5434694, essv5409384, essv5865628, essv5866550, essv5878614, essv6220352, essv5433796, essv5930135, essv6517024, essv6509428, essv6120267, essv6165238, essv5769428, essv5811230, essv6381361, essv6471569, essv6211722, essv6359033, essv6412730, essv6413907, essv5653714, essv5738409, essv6474058, essv5510110, essv6543894, essv5837581, essv6192818, essv6299794, essv6232189, essv5449638, essv5823282, essv5722644, essv5459311, essv5600909, essv6407266, essv5524861, essv6082586, essv5451986, essv6363150, essv5536622, essv5399843, essv5597653, essv5783510, essv5673612, essv6191290, essv6098582, essv6096719, essv6002327, essv5730212, essv5705297, essv5478650, essv6208341, essv6311930, essv5408439, essv6036262, essv6594629, essv6402599, essv5504160, essv6267285, essv5889885, essv6351326, essv5549135, essv5603500, essv5851856, essv5833471, essv5408278, essv5884937, essv5673451, essv5962801, essv6309475, essv5487167, essv6182997, essv5471046, essv5691106, essv6011365, essv5919501, essv5753153, essv6004617, essv6017784, essv5665094, essv5399901, essv5907763, essv6071158, essv6137000, essv6336187, essv6542126, essv5519910, essv6569325, essv6154817, essv6503737, essv5741804, essv5683048, essv6137464, essv5742212, essv6327138, essv5550963, essv5861756, essv5766384, essv6105431, essv6121330, essv5615351, essv6228383, essv5807765, essv6023174, essv5703446, essv6061245, essv6374285, essv6454703, essv6477424, essv5716707, essv5717404, essv6521831, essv6142813, essv6335155, essv6020702, essv5404611, essv5771064, essv5726432, essv5820707, essv5884095
SamplesNA20281, NA11881, NA12827, NA18621, NA19248, NA19625, HG00537, NA18861, NA19436, NA18595, NA18616, NA20771, NA19904, NA19321, NA20278, HG00619, NA18534, NA18530, NA18535, NA18871, NA18561, NA19819, HG00328, HG01055, NA18952, NA19114, NA18874, HG00500, NA20510, HG00274, NA18501, NA19093, NA19401, HG00565, NA18526, NA18550, NA19003, NA19223, NA20299, NA18545, NA19359, HG00614, NA19334, NA18947, HG01174, HG00368, NA18573, NA19461, NA19210, HG00701, HG00683, HG00698, HG00651, HG00335, NA19257, NA19108, NA19701, NA18488, HG00699, NA18557, NA18873, NA18943, HG01171, NA18949, NA19438, NA18868, NA20340, HG01107, NA18559, NA19463, NA19428, NA19383, NA19982, NA19085, HG00421, NA18635, NA19068, NA19917, NA18576, NA18563, NA19197, NA19900, HG00610, NA18990, HG01495, NA19396, NA20754, NA18592, NA18856, NA19429, NA19440, NA19908, NA18959, NA18547, NA19256, NA19835, NA11995, NA18593, NA18982, HG00276, NA19457, NA19316, NA20341, NA18539, NA19190, NA19000, HG00436, NA19360, NA19313, NA19377, NA19380, HG01111, NA12716, NA19129, NA19172, NA19703, NA19375, NA20348, NA19384, HG00629, NA12348, NA18968, NA19102, NA06986, NA19238, NA18510, NA20344, NA19657, NA18558, NA19098, NA19664, HG00501, NA18504, NA19704, HG00249, HG00478, NA18487, NA18564, NA19347, HG01351, NA19332, NA19909, HG00524, HG00512, HG00525, HG01060, NA18910, NA19382, NA18579, NA19711, NA18945, NA18940, HG01137, HG01190, NA18552, NA19138, NA19376, NA18983, NA18907, NA18909, NA19078, NA20276, HG00650, NA18538, NA18867, NA19116, HG00262, HG00580, NA19099, NA19446, NA18614, NA18548, NA20317, NA19225, NA11993, NA19655, NA18499, NA18571, NA19371, NA19198, NA18610, NA19756, HG01177, NA19240, HG00320, HG00690, NA18549, HG00473, NA19350, HG01102, HG01462, NA18908, NA19473, HG01377, NA18615, HG01110, NA19087, NA19385, NA18519, NA19065, NA07000, NA19466, NA18980, NA19439, HG00327
Known GenesEPB41L3
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2666529
Sample Size1151
Observed Gain0
Observed Loss205
Observed Complex0

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