A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13310426



Internal ID5220638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123755414..123762472hg38UCSC Ensembl
Innerchr8:123755414..123762472hg38UCSC Ensembl
Outerchr8:123755139..123762716hg38UCSC Ensembl
chr8:124767654..124774712hg19UCSC Ensembl
Innerchr8:124767654..124774712hg19UCSC Ensembl
Outerchr8:124767379..124774956hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387059
hg197059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618672
Supporting Variants
SamplesNA18622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13310426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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