A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789565



Internal ID18832625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:368038..697017hg38UCSC Ensembl
Innerchr17:217829..600257hg19UCSC Ensembl
Innerchr17:217829..547007hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38328980
hg19382429
hg18329179
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892944
Supporting Variants
Samples
Known GenesC17orf97, FAM101B, VPS53
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=70
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789565
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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