A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787988



Internal ID18832770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81244320..81272804hg38UCSC Ensembl
Innerchr17:79218120..79246604hg19UCSC Ensembl
Innerchr17:76832715..76861199hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3828485
hg1928485
hg1828485
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893051
Supporting Variants
Samples
Known GenesSLC38A10
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787988
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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