A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260858



Internal ID6037972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94712853..94716165hg38UCSC Ensembl
Innerchr8:94713353..94715665hg38UCSC Ensembl
Outerchr8:94711853..94717165hg38UCSC Ensembl
chr8:95725081..95728393hg19UCSC Ensembl
Innerchr8:95725581..95727893hg19UCSC Ensembl
Outerchr8:95724081..95729393hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383313
hg193313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618086
Supporting Variants
SamplesNA19440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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