A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892947



Internal ID18837081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2452223..2552229hg38UCSC Ensembl
Outerchr17:2414883..2552229hg38UCSC Ensembl
Innerchr17:2355517..2455523hg19UCSC Ensembl
Outerchr17:2318177..2455523hg19UCSC Ensembl
Innerchr17:2302267..2402273hg18UCSC Ensembl
Outerchr17:2264927..2402273hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38137347
hg19137347
hg18137347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789156, essv25788942
Samples
Known GenesLOC284009, METTL16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892947
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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