A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653458



Internal ID13671986
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 Flag0
Merged StatusS
Merged Variantsesv3422034
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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