A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169014



Internal ID2711397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38010374..38014968hg38UCSC Ensembl
Innerchr8:38010374..38014968hg38UCSC Ensembl
Outerchr8:38010158..38015269hg38UCSC Ensembl
chr8:37867892..37872486hg19UCSC Ensembl
Innerchr8:37867892..37872486hg19UCSC Ensembl
Outerchr8:37867676..37872787hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg384595
hg194595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616913
Supporting Variants
SamplesHG02392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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