A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169011



Internal ID6473329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37916601..37917603hg38UCSC Ensembl
Innerchr8:37916610..37917595hg38UCSC Ensembl
Outerchr8:37916593..37917612hg38UCSC Ensembl
chr8:37774119..37775121hg19UCSC Ensembl
Innerchr8:37774128..37775113hg19UCSC Ensembl
Outerchr8:37774111..37775130hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616912
Supporting Variants
SamplesNA20521
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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