A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351135



Internal ID1254490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139095003..139310811hg38UCSC Ensembl
Innerchr8:139095153..139310661hg38UCSC Ensembl
Outerchr8:139094853..139310961hg38UCSC Ensembl
chr8:140107246..140323055hg19UCSC Ensembl
Innerchr8:140107396..140322905hg19UCSC Ensembl
Outerchr8:140107096..140323205hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38215809
hg19215810
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619003
Supporting Variants
SamplesHG01107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351135
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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