A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796057



Internal ID18829978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39172813..39177990hg38UCSC Ensembl
Innerchr17:37329066..37334243hg19UCSC Ensembl
Innerchr17:34582592..34587769hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385178
hg195178
hg185178
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893012
Supporting Variants
Samples
Known GenesCACNB1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796057
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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