A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647474



Internal ID6687529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25450710..25525909hg38UCSC Ensembl
chr22:25846677..25921876hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3875200
hg1975200
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
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647474
Frequency
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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