A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666474



Internal ID9932579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39506917..39514273hg38UCSC Ensembl
Outerchr7:39506546..39514643hg38UCSC Ensembl
Innerchr7:39546516..39553872hg19UCSC Ensembl
Outerchr7:39546145..39554242hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg388098
hg198098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1195e199
Supporting Variantsessv6574975, essv6356657, essv5457688, essv6498684, essv5397414, essv6092636, essv6131315, essv5686743, essv6029759
SamplesHG01462, HG01140, HG01488, HG01149, HG01497, HG01375, HG01137, HG01489, HG01125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666474
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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