A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793175



Internal ID18814925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96058284..96367788hg38UCSC Ensembl
Innerchr13:96710538..97020042hg19UCSC Ensembl
Innerchr13:95508539..95818043hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38309505
hg19309505
hg18309505
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892432
Supporting Variants
Samples
Known GenesHS6ST3
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793175
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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