A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675395



Internal ID9941500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49900260..49905929hg38UCSC Ensembl
Outerchr13:49900223..49905979hg38UCSC Ensembl
Innerchr13:50474396..50480065hg19UCSC Ensembl
Outerchr13:50474359..50480115hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385757
hg195757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351e199
Supporting Variantsessv6031942, essv5445599
SamplesHG01107, NA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675395
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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