A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384965



Internal ID15231935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234513869..234515867hg38UCSC Ensembl
Innerchr2:234514867..234514869hg38UCSC Ensembl
Outerchr2:234512869..234516867hg38UCSC Ensembl
chr2:235422513..235424511hg19UCSC Ensembl
Innerchr2:235423511..235423513hg19UCSC Ensembl
Outerchr2:235421513..235425511hg19UCSC Ensembl
chr2:235087252..235089250hg18UCSC Ensembl
Innerchr2:235088252..235088250hg18UCSC Ensembl
Outerchr2:235086252..235090250hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693513
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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