A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674596



Internal ID9940701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80331638..80336989hg38UCSC Ensembl
chr7:79960954..79966305hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385352
hg195352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514528, essv6150896, essv6097994
SamplesNA12273, HG00178, NA11892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674596
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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