A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592045



Internal ID6979372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114415698..114417349hg38UCSC Ensembl
Innerchr2:114415748..114417299hg38UCSC Ensembl
Outerchr2:114415648..114417399hg38UCSC Ensembl
chr2:115173275..115174926hg19UCSC Ensembl
Innerchr2:115173325..115174876hg19UCSC Ensembl
Outerchr2:115173225..115174976hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10632586
SamplesHG00614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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