A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567592



Internal ID18421982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111414902..111414969hg38UCSC Ensembl
Outerchr1:111414901..111414970hg38UCSC Ensembl
Innerchr1:111957524..111957591hg19UCSC Ensembl
Outerchr1:111957523..111957592hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e215
Supporting Variantsessv9766339
Samples
Known GenesOVGP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567592
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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