A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639061



Internal ID7025845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74337347..74354133hg38UCSC Ensembl
chr16:74371245..74388031hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3816787
hg1916787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15516759, essv15516746, essv15516753, essv15516744, essv15516754, essv15516760, essv15516756, essv15516752, essv15516741, essv15516745, essv15516740, essv15516738, essv15516739, essv15516737, essv15516743, essv15516750, essv15516757, essv15516748, essv15516749, essv15516736, essv15516762, essv15516761, essv15516751, essv15516734, essv15516758, essv15516747, essv15516735, essv15516755, essv15516742
SamplesHG02652, NA20543, HG01965, NA12045, HG01686, NA19377, NA12813, HG00127, HG01702, HG03976, HG03673, HG01069, NA20811, HG03750, HG03902, NA20800, NA19437, HG01360, HG01435, HG03511, HG01768, HG01474, HG03752, HG01075, HG02722, HG01785, HG03642, HG00171, HG03867
Known GenesLOC283922
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639061
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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