A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288466



Internal ID5872772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112129819..112142528hg38UCSC Ensembl
Innerchr8:112129844..112142503hg38UCSC Ensembl
Outerchr8:112129794..112142553hg38UCSC Ensembl
chr8:113142048..113154757hg19UCSC Ensembl
Innerchr8:113142073..113154732hg19UCSC Ensembl
Outerchr8:113142023..113154782hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3812710
hg1912710
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618450
Supporting Variants
SamplesNA19256
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288466
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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