A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617568



Internal ID7004453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70499154..70516863hg38UCSC Ensembl
Innerchr8:70499654..70516363hg38UCSC Ensembl
Outerchr8:70498154..70517863hg38UCSC Ensembl
chr8:71411389..71429098hg19UCSC Ensembl
Innerchr8:71411889..71428598hg19UCSC Ensembl
Outerchr8:71410389..71430098hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3817710
hg1917710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13219293
SamplesHG01954
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617568
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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