A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13206196



Internal ID5844117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57927196..57933145hg38UCSC Ensembl
Innerchr8:57927217..57933124hg38UCSC Ensembl
Outerchr8:57927175..57933166hg38UCSC Ensembl
chr8:58839755..58845704hg19UCSC Ensembl
Innerchr8:58839776..58845683hg19UCSC Ensembl
Outerchr8:58839734..58845725hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385950
hg195950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617331
Supporting Variants
SamplesNA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13206196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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