A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609943



Internal ID6996862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:91670566..91672625hg38UCSC Ensembl
Innerchr6:91670568..91672623hg38UCSC Ensembl
Outerchr6:91670564..91672627hg38UCSC Ensembl
chr6:92380284..92382343hg19UCSC Ensembl
Innerchr6:92380286..92382341hg19UCSC Ensembl
Outerchr6:92380282..92382345hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382060
hg192060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12461752, essv12461751, essv12461755, essv12461750, essv12461753, essv12461749, essv12461754, essv12461748
SamplesHG03372, HG03301, NA18879, HG03078, HG03469, HG03066, NA19185, HG02851
Known GenesCASC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609943
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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