A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677474



Internal ID9943579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3796812..3816789hg38UCSC Ensembl
Outerchr7:3796775..3816839hg38UCSC Ensembl
Innerchr7:3836444..3856421hg19UCSC Ensembl
Outerchr7:3836407..3856471hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3820065
hg1920065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6084273
SamplesNA19381
Known GenesSDK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677474
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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