A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3647474

Internal ID6687529
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25450710..25525909hg38UCSC Ensembl
chr22:25846677..25921876hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16395551, essv16395576, essv16395595, essv16395582, essv16395557, essv16395601, essv16395580, essv16395558, essv16395603, essv16395566, essv16395592, essv16395546, essv16395599, essv16395561, essv16395572, essv16395600, essv16395588, essv16395565, essv16395550, essv16395539, essv16395564, essv16395581, essv16395596, essv16395594, essv16395568, essv16395548, essv16395573, essv16395598, essv16395569, essv16395606, essv16395607, essv16395575, essv16395589, essv16395543, essv16395545, essv16395585, essv16395544, essv16395563, essv16395560, essv16395597, essv16395583, essv16395571, essv16395562, essv16395542, essv16395586, essv16395552, essv16395602, essv16395577, essv16395574, essv16395608, essv16395579, essv16395547, essv16395559, essv16395587, essv16395604, essv16395591, essv16395609, essv16395553, essv16395593, essv16395567, essv16395554, essv16395549, essv16395541, essv16395570, essv16395578, essv16395584, essv16395605, essv16395590, essv16395540, essv16395556, essv16395555
SamplesHG02140, HG02724, HG01459, HG04146, HG01790, NA18595, HG01675, HG02970, HG02184, HG02164, HG03693, HG00736, HG00160, HG02792, HG01079, HG01051, HG03663, HG03124, HG01174, NA19920, NA21130, HG03920, HG03680, HG02790, HG03951, HG03928, NA19143, HG02420, NA19383, NA12843, HG00371, NA19107, HG01709, HG03717, HG02861, HG03539, HG02028, HG02521, NA11995, NA19681, HG02595, HG00867, NA19360, NA12716, HG03743, HG00176, NA19657, HG03518, HG02771, NA20797, HG01447, HG03118, HG03115, NA19141, NA18909, HG04022, NA19764, HG01390, NA20507, NA11830, NA19770, HG02589, HG03343, HG01912, HG04177, NA20359, HG02682, HG01710, NA07000, HG02253, HG00327
Known GenesCRYBB2P1, MIR6817
PlatformMultiple platforms
Pubmed ID21293372
Accession Number(s)esv3647474
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0

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