A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179111



Internal ID6319419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3242030..3243855hg38UCSC Ensembl
Innerchr6:3242031..3243854hg38UCSC Ensembl
Outerchr6:3242029..3243856hg38UCSC Ensembl
chr6:3242264..3244089hg19UCSC Ensembl
Innerchr6:3242265..3244088hg19UCSC Ensembl
Outerchr6:3242263..3244090hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607926
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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