A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892944



Internal ID18837078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:379187..697017hg38UCSC Ensembl
Outerchr17:368038..947302hg38UCSC Ensembl
Innerchr17:228978..600257hg19UCSC Ensembl
Outerchr17:217829..850542hg19UCSC Ensembl
Innerchr17:228978..547007hg18UCSC Ensembl
Outerchr17:217829..797292hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38579265
hg19632714
hg18579464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788441, essv25789565
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892944
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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