A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789974



Internal ID19162541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198035752..198097000hg38UCSC Ensembl
Innerchr3:197762623..197823871hg19UCSC Ensembl
Innerchr3:199247020..199308268hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3861249
hg1961249
hg1861249
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893858
Supporting Variants
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789974
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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