A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574633



Internal ID6318821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142796404..142806407hg38UCSC Ensembl
Innerchr6:142796554..142806257hg38UCSC Ensembl
Outerchr6:142796254..142806557hg38UCSC Ensembl
chr6:143117541..143127544hg19UCSC Ensembl
Innerchr6:143117691..143127394hg19UCSC Ensembl
Outerchr6:143117391..143127694hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3810004
hg1910004
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611083
Supporting Variants
SamplesNA19917
Known GenesHIVEP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574633
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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