A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892945



Internal ID19183765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:310060..354968hg38UCSC Ensembl
Outerchr17:296637..379187hg38UCSC Ensembl
Innerchr17:159851..204759hg19UCSC Ensembl
Outerchr17:146428..228978hg19UCSC Ensembl
Innerchr17:159851..204759hg18UCSC Ensembl
Outerchr17:146428..228978hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3882551
hg1982551
hg1882551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788962, essv25789207
Samples
Known GenesLOC100506388, RPH3AL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892945
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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