A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789156



Internal ID18827142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2452223..2552229hg38UCSC Ensembl
Innerchr17:2355517..2455523hg19UCSC Ensembl
Innerchr17:2302267..2402273hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38100007
hg19100007
hg18100007
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892947
Supporting Variants
Samples
Known GenesMETTL16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789156
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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