A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780017



Internal ID18815021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48002211..48072851hg38UCSC Ensembl
Innerchr19:48505468..48576108hg19UCSC Ensembl
Innerchr19:53197280..53267920hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3870641
hg1970641
hg1870641
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893228
Supporting Variants
Samples
Known GenesCABP5, ELSPBP1, PLA2G4C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780017
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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