A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788123



Internal ID18832751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82895301..83102003hg38UCSC Ensembl
Innerchr17:80853177..81060000hg19UCSC Ensembl
Innerchr17:78446466..78653168hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38206703
hg19206824
hg18206703
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893052
Supporting Variants
Samples
Known GenesB3GNTL1, METRNL, TBCD
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=65
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788123
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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