A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317870



Internal ID4637389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126272870..126280268hg38UCSC Ensembl
Innerchr8:126272870..126280268hg38UCSC Ensembl
Outerchr8:126272650..126280490hg38UCSC Ensembl
chr8:127285115..127292513hg19UCSC Ensembl
Innerchr8:127285115..127292513hg19UCSC Ensembl
Outerchr8:127284895..127292735hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618742
Supporting Variants
SamplesHG04164
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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