A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608974



Internal ID6995898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51408751..51413467hg38UCSC Ensembl
Innerchr6:51408751..51413467hg38UCSC Ensembl
Outerchr6:51408251..51413967hg38UCSC Ensembl
chr6:51273549..51278265hg19UCSC Ensembl
Innerchr6:51273549..51278265hg19UCSC Ensembl
Outerchr6:51273049..51278765hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg384717
hg194717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12346803
SamplesNA18504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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