A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781293



Internal ID18821697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46352840..46489976hg38UCSC Ensembl
Innerchr17:44430206..44567342hg19UCSC Ensembl
Innerchr17:41785962..41922658hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38137137
hg19137137
hg18136697
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=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781293
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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