A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669334



Internal ID9935439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122847764..122850439hg38UCSC Ensembl
chr6:123168909..123171584hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6194521, essv6191844, essv6104584, essv5494415, essv5617241, essv6234204, essv6225596
SamplesNA20537, HG00369, HG00323, HG00344, HG00324, HG01055, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669334
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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