A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618633



Internal ID7005515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121679370..121682878hg38UCSC Ensembl
Innerchr8:121679400..121682848hg38UCSC Ensembl
Outerchr8:121679340..121682908hg38UCSC Ensembl
chr8:122691610..122695118hg19UCSC Ensembl
Innerchr8:122691640..122695088hg19UCSC Ensembl
Outerchr8:122691580..122695148hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383509
hg193509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13307940, essv13307941
SamplesNA19350, HG01668
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618633
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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