A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788441



Internal ID18827417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:379187..947302hg38UCSC Ensembl
Innerchr17:228978..850542hg19UCSC Ensembl
Innerchr17:228978..797292hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38568116
hg19621565
hg18568315
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892944
Supporting Variants
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=176
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788441
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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