A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13237769



Internal ID905518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78938872..78951306hg38UCSC Ensembl
Innerchr8:78939022..78951156hg38UCSC Ensembl
Outerchr8:78938722..78951456hg38UCSC Ensembl
chr8:79851107..79863541hg19UCSC Ensembl
Innerchr8:79851257..79863391hg19UCSC Ensembl
Outerchr8:79850957..79863691hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3812435
hg1912435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617745
Supporting Variants
SamplesHG00531
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13237769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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