A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560606



Internal ID18414996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178432602..178435755hg38UCSC Ensembl
Outerchr2:178432202..178436171hg38UCSC Ensembl
Innerchr2:179297329..179300482hg19UCSC Ensembl
Outerchr2:179296929..179300898hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383970
hg193970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759353
Samples
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560606
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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