A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422034



Internal ID15268992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45796106..45796106hg38UCSC Ensembl
Innerchr6:45796105..45796107hg38UCSC Ensembl
Outerchr6:45796056..45796156hg38UCSC Ensembl
chr6:45763843..45763843hg19UCSC Ensembl
Innerchr6:45763842..45763844hg19UCSC Ensembl
Outerchr6:45763793..45763893hg19UCSC Ensembl
chr6:45871821..45871821hg18UCSC Ensembl
Innerchr6:45871822..45871820hg18UCSC Ensembl
Outerchr6:45871771..45871871hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38474
hg19474
hg18474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653458, essv8653456, essv8653457
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422034
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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