A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788962



Internal ID19178114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:296637..379187hg38UCSC Ensembl
Innerchr17:146428..228978hg19UCSC Ensembl
Innerchr17:146428..228978hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3882551
hg1982551
hg1882551
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892945
Supporting Variants
Samples
Known GenesLOC100506388, RPH3AL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788962
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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