A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738514



Internal ID18712702
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 StatusS
Merged Variantsesv3539767
Supporting Variants
Samples
Known GenesHIPK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738514
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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