A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678192



Internal ID9944297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:79292586..79294670hg38UCSC Ensembl
Outerchr9:79292429..79294823hg38UCSC Ensembl
Innerchr9:81907501..81909585hg19UCSC Ensembl
Outerchr9:81907344..81909738hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5900260, essv6169372
SamplesHG01072, HG00731
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678192
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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