A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666529



Internal ID4710863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5492281..5492519hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6368228, essv5950273, essv5437302, essv6146465, essv5708829, essv5641282, essv5735816, essv5691463, essv5434983, essv6381238, essv5620791, essv6454021, essv6166127, essv5447785, essv5661736, essv5710548, essv6337330, essv6528013, essv6066613, essv5864683, essv6161203, essv5427585, essv5932366, essv5552531, essv5595337, essv6081063, essv5967926, essv5991288, essv5556353, essv5782376, essv5607567, essv6458573, essv5679632, essv5813581, essv6197834, essv5856748, essv6540549, essv6520438, essv5787380, essv5472541, essv5987321, essv5508881, essv6351916, essv6377919, essv5609643, essv6300999, essv6004974, essv6253456, essv6339539, essv5489191, essv6150472, essv6078199, essv5748012, essv5483802, essv6204738, essv5933090, essv6548196, essv5426504, essv6438920, essv5450837, essv5935378, essv5533640, essv5810385, essv6303500, essv5919284, essv5923394, essv5585781, essv6212158, essv6414910, essv6208774, essv6385344, essv6267667, essv5661302, essv6031311, essv5596318, essv5417263, essv6015930, essv6058125, essv5414978, essv6307868, essv6259339, essv6017840, essv5435781, essv6484526, essv5639962, essv5434694, essv5409384, essv5865628, essv5866550, essv5878614, essv6220352, essv6517024, essv5930135, essv5433796, essv6509428, essv6165238, essv6120267, essv5769428, essv6471569, essv6381361, essv5811230, essv6211722, essv6359033, essv6412730, essv6413907, essv5653714, essv6474058, essv5738409, essv5510110, essv6543894, essv6192818, essv5837581, essv6299794, essv6232189, essv5823282, essv5449638, essv5722644, essv5600909, essv5459311, essv6407266, essv5524861, essv6082586, essv5451986, essv6363150, essv5536622, essv5399843, essv5783510, essv5597653, essv5673612, essv6191290, essv6098582, essv6096719, essv6002327, essv5730212, essv5705297, essv5478650, essv6208341, essv6311930, essv5408439, essv6594629, essv6036262, essv6402599, essv5504160, essv6267285, essv6351326, essv5889885, essv5549135, essv5603500, essv5851856, essv5833471, essv5408278, essv5884937, essv5673451, essv5962801, essv6309475, essv6182997, essv5487167, essv5691106, essv5471046, essv6011365, essv5919501, essv5753153, essv6004617, essv6017784, essv5665094, essv5399901, essv5907763, essv6542126, essv6137000, essv6336187, essv6071158, essv5519910, essv6569325, essv6154817, essv6503737, essv5741804, essv5683048, essv6137464, essv5742212, essv6327138, essv5550963, essv5861756, essv5766384, essv6105431, essv6121330, essv5615351, essv6228383, essv5807765, essv6023174, essv5703446, essv6061245, essv6477424, essv6374285, essv6454703, essv5716707, essv6521831, essv5717404, 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
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666529
Frequency
Sample Size1151
Observed Gain0
Observed Loss205
Observed Complex0
Frequencyn/a


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