A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789158



Internal ID19163050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:23755600..24058822hg38UCSC Ensembl
Innerchr19:23938402..24241624hg19UCSC Ensembl
Innerchr19:23730242..24033464hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38303223
hg19303223
hg18303223
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893187
Supporting Variants
Samples
Known GenesRPSAP58, ZNF254, ZNF681, ZNF726
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789158
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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