A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560547



Internal ID18761623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172315330..172321366hg38UCSC Ensembl
Outerchr2:172314998..172321447hg38UCSC Ensembl
Innerchr2:173180058..173186094hg19UCSC Ensembl
Outerchr2:173179726..173186175hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386450
hg196450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759294
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560547
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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