A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893251



Internal ID18837385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55079303..55094733hg38UCSC Ensembl
Outerchr19:55079303..55094733hg38UCSC Ensembl
Innerchr19:55590671..55606101hg19UCSC Ensembl
Outerchr19:55590671..55606101hg19UCSC Ensembl
Innerchr19:60282483..60297913hg18UCSC Ensembl
Outerchr19:60282483..60297913hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3815431
hg1915431
hg1815431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781622
Samples
Known GenesEPS8L1, PPP1R12C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893251
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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