A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790862



Internal ID18835615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103555093..103738941hg38UCSC Ensembl
Innerchr1:104097715..104281563hg19UCSC Ensembl
Innerchr1:103899238..104083086hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38183849
hg19183849
hg18183849
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893856
Supporting Variants
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790862
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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