A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789025



Internal ID18834206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:725939..804013hg38UCSC Ensembl
Innerchr19:725939..804013hg19UCSC Ensembl
Innerchr19:676939..755013hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3878075
hg1978075
hg1878075
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893155
Supporting Variants
Samples
Known GenesMISP, PALM, PTBP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789025
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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