A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153631



Internal ID1521781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29631951..29633884hg38UCSC Ensembl
Innerchr8:29631953..29633883hg38UCSC Ensembl
Outerchr8:29631950..29633886hg38UCSC Ensembl
chr8:29489467..29491400hg19UCSC Ensembl
Innerchr8:29489469..29491399hg19UCSC Ensembl
Outerchr8:29489466..29491402hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381934
hg191934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616773
Supporting Variants
SamplesHG01395
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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