A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669413



Internal ID9588832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96267536..96273569hg38UCSC Ensembl
Outerchr13:96267379..96273722hg38UCSC Ensembl
Innerchr13:96919790..96925823hg19UCSC Ensembl
Outerchr13:96919633..96925976hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386344
hg196344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv376e199
Supporting Variantsessv5845474, essv5437517, essv5953163, essv5531272, essv5826242, essv6418515
SamplesNA19332, NA19190, NA19904, NA18856, NA18523, NA19311
Known GenesHS6ST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669413
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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