A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13303759



Internal ID2044398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119253275..119258952hg38UCSC Ensembl
Innerchr8:119253278..119258949hg38UCSC Ensembl
Outerchr8:119253272..119258955hg38UCSC Ensembl
chr8:120265515..120271192hg19UCSC Ensembl
Innerchr8:120265518..120271189hg19UCSC Ensembl
Outerchr8:120265512..120271195hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385678
hg195678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618595
Supporting Variants
SamplesHG01870
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13303759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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