A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616294



Internal ID7003181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12923963..12930650hg38UCSC Ensembl
Innerchr8:12924009..12930604hg38UCSC Ensembl
Outerchr8:12923917..12930696hg38UCSC Ensembl
chr8:12781472..12788159hg19UCSC Ensembl
Innerchr8:12781518..12788113hg19UCSC Ensembl
Outerchr8:12781426..12788205hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386688
hg196688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13113698
SamplesNA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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