A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675687



Internal ID9941792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:46316417..46322689hg38UCSC Ensembl
Outerchr7:46316260..46322842hg38UCSC Ensembl
Innerchr7:46356015..46362287hg19UCSC Ensembl
Outerchr7:46355858..46362440hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg386583
hg196583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059009, essv6485796, essv6027839
SamplesHG00422, NA18538, NA18564
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675687
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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