A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790700



Internal ID18814467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13629109..13774670hg38UCSC Ensembl
Innerchr19:13739923..13885484hg19UCSC Ensembl
Innerchr19:13600923..13746484hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38145562
hg19145562
hg18145562
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893166
Supporting Variants
Samples
Known GenesC19orf53, CCDC130, MRI1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790700
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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