A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13243715



Internal ID2204328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84178267..84181701hg38UCSC Ensembl
Innerchr8:84178267..84181701hg38UCSC Ensembl
Outerchr8:84178161..84181986hg38UCSC Ensembl
chr8:85090502..85093936hg19UCSC Ensembl
Innerchr8:85090502..85093936hg19UCSC Ensembl
Outerchr8:85090396..85094221hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383435
hg193435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617851
Supporting Variants
SamplesHG01985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13243715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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