A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382523



Internal ID14882799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151222576..151222583hg38UCSC Ensembl
Innerchr6:151222578..151222581hg38UCSC Ensembl
Outerchr6:151222574..151222585hg38UCSC Ensembl
chr6:151543711..151543718hg19UCSC Ensembl
Innerchr6:151543713..151543716hg19UCSC Ensembl
Outerchr6:151543709..151543720hg19UCSC Ensembl
chr6:151585404..151585411hg18UCSC Ensembl
Innerchr6:151585406..151585409hg18UCSC Ensembl
Outerchr6:151585402..151585413hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864667
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382523
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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