A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359333



Internal ID15206312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156804733..156804751hg38UCSC Ensembl
Innerchr2:156804730..156804751hg38UCSC Ensembl
Outerchr2:156804715..156804769hg38UCSC Ensembl
chr2:157661245..157661263hg19UCSC Ensembl
Innerchr2:157661242..157661263hg19UCSC Ensembl
Outerchr2:157661227..157661281hg19UCSC Ensembl
chr2:157369491..157369509hg18UCSC Ensembl
Innerchr2:157369509..157369488hg18UCSC Ensembl
Outerchr2:157369473..157369527hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674518
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359333
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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