A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246016



Internal ID6058385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85172083..85176011hg38UCSC Ensembl
Innerchr8:85172102..85175992hg38UCSC Ensembl
Outerchr8:85172064..85176030hg38UCSC Ensembl
chr8:86084318..86088246hg19UCSC Ensembl
Innerchr8:86084337..86088227hg19UCSC Ensembl
Outerchr8:86084299..86088265hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383929
hg193929
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617873
Supporting Variants
SamplesNA19452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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