A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790396



Internal ID18831185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46297651..46704811hg38UCSC Ensembl
Innerchr17:44375017..44782177hg19UCSC Ensembl
Innerchr17:41730794..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38407161
hg19407161
hg18406566
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893020
Supporting Variants
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790396
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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