A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656562



Internal ID9575981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33359627..33364118hg38UCSC Ensembl
chr22:33755613..33760104hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384492
hg194492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930362, essv5626661, essv6432452, essv6087932, essv5600979, essv6280450, essv5870230, essv6323204, essv6471217, essv5828788, essv5541754, essv5500681, essv5607840, essv5487079, essv5762321, essv6436122, essv5668698, essv6445053, essv5583579, essv5928143, essv6285699, essv6502212
SamplesNA12718, HG01173, NA19455, NA19359, HG00375, NA19449, NA12058, HG00247, HG00158, NA19982, HG01136, HG00243, HG00478, NA19332, HG00246, NA19235, HG00443, NA19403, HG00311, HG01108, HG01125, HG01067
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656562
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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