A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893228



Internal ID18837362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48002211..48072851hg38UCSC Ensembl
Outerchr19:48002211..48072851hg38UCSC Ensembl
Innerchr19:48505468..48576108hg19UCSC Ensembl
Outerchr19:48505468..48576108hg19UCSC Ensembl
Innerchr19:53197280..53267920hg18UCSC Ensembl
Outerchr19:53197280..53267920hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3870641
hg1970641
hg1870641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780017
Samples
Known GenesCABP5, ELSPBP1, PLA2G4C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893228
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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