A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560819



Internal ID18415209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201258150..201258263hg38UCSC Ensembl
Outerchr2:201258147..201258266hg38UCSC Ensembl
Innerchr2:202122873..202122986hg19UCSC Ensembl
Outerchr2:202122870..202122989hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759566
Samples
Known GenesCASP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560819
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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