A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13177134



Internal ID1324782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39911953..39918669hg38UCSC Ensembl
Innerchr8:39912007..39918616hg38UCSC Ensembl
Outerchr8:39911900..39918723hg38UCSC Ensembl
chr8:39769472..39776188hg19UCSC Ensembl
Innerchr8:39769526..39776135hg19UCSC Ensembl
Outerchr8:39769419..39776242hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386717
hg196717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616962
Supporting Variants
SamplesHG01170
Known GenesIDO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13177134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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