A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609447



Internal ID6996368
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12411695, essv12411693, essv12411694
SamplesNA19819, NA19449, NA19019
Known GenesB3GAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609447
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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