A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544412



Internal ID18745488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125208..128182hg38UCSC Ensembl
Outerchr9:125162..128226hg38UCSC Ensembl
Innerchr9:125208..128182hg19UCSC Ensembl
Outerchr9:125162..128226hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383065
hg193065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743159
Samples
Known GenesCBWD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544412
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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