A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893763



Internal ID18837897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112998472..113113216hg38UCSC Ensembl
Outerchr3:112998472..113113216hg38UCSC Ensembl
Innerchr3:112717319..112832063hg19UCSC Ensembl
Outerchr3:112717319..112832063hg19UCSC Ensembl
Innerchr3:114200009..114314753hg18UCSC Ensembl
Outerchr3:114200009..114314753hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38114745
hg19114745
hg18114745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780895
Samples
Known GenesC3orf17, GTPBP8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893763
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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