A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13308683



Internal ID3310499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122101263..122102832hg38UCSC Ensembl
Innerchr8:122101263..122102832hg38UCSC Ensembl
Outerchr8:122100861..122103176hg38UCSC Ensembl
chr8:123113502..123115071hg19UCSC Ensembl
Innerchr8:123113502..123115071hg19UCSC Ensembl
Outerchr8:123113100..123115415hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618642
Supporting Variants
SamplesNA19256
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13308683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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