A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670147



Internal ID9936252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39619514..39620422hg38UCSC Ensembl
Outerchr13:39619471..39620472hg38UCSC Ensembl
Innerchr13:40193651..40194559hg19UCSC Ensembl
Outerchr13:40193608..40194609hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6301296
SamplesNA11994
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670147
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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