A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13177639



Internal ID3179455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40612187..40612867hg38UCSC Ensembl
Innerchr8:40612189..40612866hg38UCSC Ensembl
Outerchr8:40612186..40612869hg38UCSC Ensembl
chr8:40469706..40470386hg19UCSC Ensembl
Innerchr8:40469708..40470385hg19UCSC Ensembl
Outerchr8:40469705..40470388hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616975
Supporting Variants
SamplesHG01767
Known GenesZMAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13177639
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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