A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610379



Internal ID6997296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111621017..111623563hg38UCSC Ensembl
Innerchr6:111621017..111623563hg38UCSC Ensembl
Outerchr6:111620723..111623724hg38UCSC Ensembl
chr6:111942220..111944766hg19UCSC Ensembl
Innerchr6:111942220..111944766hg19UCSC Ensembl
Outerchr6:111941926..111944927hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382547
hg192547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12503934, essv12503935
SamplesHG00671, HG02186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610379
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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