A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788760



Internal ID19168329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43057570..43137784hg38UCSC Ensembl
Innerchr19:43561722..43641936hg19UCSC Ensembl
Innerchr19:48253562..48333776hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3880215
hg1980215
hg1880215
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893213
Supporting Variants
Samples
Known GenesPSG2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788760
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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