A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666660



Internal ID9932765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120664033..120674365hg38UCSC Ensembl
Outerchr7:120663876..120674518hg38UCSC Ensembl
Innerchr7:120304087..120314419hg19UCSC Ensembl
Outerchr7:120303930..120314572hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3810643
hg1910643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5468264, essv5681278, essv5454857, essv6021971
SamplesHG00309, HG00268, NA12043, HG00252
Known GenesKCND2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666660
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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