A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309542



Internal ID15156493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156804734..156804735hg38UCSC Ensembl
Innerchr2:156804704..156804765hg38UCSC Ensembl
Outerchr2:156804703..156804766hg38UCSC Ensembl
chr2:157661246..157661247hg19UCSC Ensembl
Innerchr2:157661216..157661277hg19UCSC Ensembl
Outerchr2:157661215..157661278hg19UCSC Ensembl
chr2:157369492..157369493hg18UCSC Ensembl
Innerchr2:157369523..157369462hg18UCSC Ensembl
Outerchr2:157369461..157369524hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837641, essv7836808, essv7838759
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309542
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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