A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445786



Internal ID15292736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74505116..74505141hg38UCSC Ensembl
Innerchr2:74505115..74505142hg38UCSC Ensembl
Outerchr2:74505066..74505191hg38UCSC Ensembl
chr2:74732243..74732268hg19UCSC Ensembl
Innerchr2:74732242..74732269hg19UCSC Ensembl
Outerchr2:74732193..74732318hg19UCSC Ensembl
chr2:74585751..74585776hg18UCSC Ensembl
Innerchr2:74585777..74585750hg18UCSC Ensembl
Outerchr2:74585701..74585826hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741067
SamplesNA19240
Known GenesPCGF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445786
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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