A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13223943



Internal ID3984169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72128806..72150003hg38UCSC Ensembl
Innerchr8:72128806..72150003hg38UCSC Ensembl
Outerchr8:72128647..72150150hg38UCSC Ensembl
chr8:73041041..73062238hg19UCSC Ensembl
Innerchr8:73041041..73062238hg19UCSC Ensembl
Outerchr8:73040882..73062385hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3821198
hg1921198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617608
Supporting Variants
SamplesHG03640
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13223943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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