A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416625



Internal ID15263583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238776371..238777669hg38UCSC Ensembl
Innerchr2:238776869..238777451hg38UCSC Ensembl
Outerchr2:238775372..238778669hg38UCSC Ensembl
chr2:239685012..239686310hg19UCSC Ensembl
Innerchr2:239685510..239686092hg19UCSC Ensembl
Outerchr2:239684013..239687310hg19UCSC Ensembl
chr2:239349752..239351050hg18UCSC Ensembl
Innerchr2:239350752..239350050hg18UCSC Ensembl
Outerchr2:239348752..239352050hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2372e59
Supporting Variantsessv8693546
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416625
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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