A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892955



Internal ID19183775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4310710..4417249hg38UCSC Ensembl
Outerchr17:4310710..4476283hg38UCSC Ensembl
Innerchr17:4214005..4320544hg19UCSC Ensembl
Outerchr17:4214005..4379578hg19UCSC Ensembl
Innerchr17:4160754..4267293hg18UCSC Ensembl
Outerchr17:4160754..4326327hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38165574
hg19165574
hg18165574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788589, essv25788637, essv25788592, essv25789602
Samples
Known GenesSPNS3, UBE2G1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892955
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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