A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539767



Internal ID18740883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113950195..113950663hg38UCSC Ensembl
Outerchr1:113950183..113950666hg38UCSC Ensembl
Innerchr1:114492817..114493285hg19UCSC Ensembl
Outerchr1:114492805..114493288hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738514
Samples
Known GenesHIPK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539767
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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