A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25801322



Internal ID18830390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347360..46481604hg38UCSC Ensembl
Innerchr17:44424726..44558970hg19UCSC Ensembl
Innerchr17:41780482..41914286hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38134245
hg19134245
hg18133805
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893017
Supporting Variants
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25801322
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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