A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788592



Internal ID19170342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4310710..4417249hg38UCSC Ensembl
Innerchr17:4214005..4320544hg19UCSC Ensembl
Innerchr17:4160754..4267293hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38106540
hg19106540
hg18106540
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892955
Supporting Variants
Samples
Known GenesUBE2G1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788592
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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