A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893023



Internal ID18837157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347360..46580822hg38UCSC Ensembl
Outerchr17:46272724..46610400hg38UCSC Ensembl
Innerchr17:44424726..44658188hg19UCSC Ensembl
Outerchr17:44350090..44687766hg19UCSC Ensembl
Innerchr17:41780482..42013504hg18UCSC Ensembl
Outerchr17:41705867..42043082hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38337677
hg19337677
hg18337216
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791987, essv25791096, essv25790142, essv25790222, essv25790241, essv25791099, essv25788759, essv25789910, essv25791496, essv25786195, essv25792268, essv25791876
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893023
Frequency
Sample Size3017
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer