A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13165891



Internal ID4834172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:35131239..35132902hg38UCSC Ensembl
Innerchr8:35131279..35132863hg38UCSC Ensembl
Outerchr8:35131200..35132942hg38UCSC Ensembl
chr8:34988757..34990420hg19UCSC Ensembl
Innerchr8:34988797..34990381hg19UCSC Ensembl
Outerchr8:34988718..34990460hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616877
Supporting Variants
SamplesNA12058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13165891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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