A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561084



Internal ID18415474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226152886..226153085hg38UCSC Ensembl
Outerchr2:226152825..226153111hg38UCSC Ensembl
Innerchr2:227017602..227017801hg19UCSC Ensembl
Outerchr2:227017541..227017827hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759831
Samples
Known GenesLOC646736
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561084
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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