A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12411695



Internal ID6286846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70889293..70891964hg38UCSC Ensembl
Innerchr6:70889293..70891964hg38UCSC Ensembl
Outerchr6:70889034..70892193hg38UCSC Ensembl
chr6:71598996..71601667hg19UCSC Ensembl
Innerchr6:71598996..71601667hg19UCSC Ensembl
Outerchr6:71598737..71601896hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382672
hg192672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609447
Supporting Variants
SamplesNA19819
Known GenesB3GAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12411695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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