A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657140



Internal ID9923245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48320263..48320355hg38UCSC Ensembl
Outerchr22:48320226..48320405hg38UCSC Ensembl
Innerchr22:48716075..48716167hg19UCSC Ensembl
Outerchr22:48716038..48716217hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6271311, essv6389223, essv5940616, essv6031565, essv5422622, essv6546344, essv6191694, essv6367091, essv5493177, essv5846667, essv6321949
SamplesNA19359, HG01366, HG00251, NA19404, HG00309, HG00443, HG01334, HG00336, HG00237, HG00339, HG01082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657140
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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