A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567108



Internal ID18768184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179849029..179849823hg38UCSC Ensembl
Outerchr5:179849023..179849835hg38UCSC Ensembl
Innerchr5:179276029..179276823hg19UCSC Ensembl
Outerchr5:179276023..179276835hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765855
Samples
Known GenesC5orf45
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567108
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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