A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767



Internal ID9631936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33286168..34090656hg38UCSC Ensembl
Innerchr19:33777074..34581561hg19UCSC Ensembl
Innerchr19:38468914..39273401hg18UCSC Ensembl
Innerchr19:38468914..39273401hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38804489
hg19804488
hg18804488
hg17804488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758495
Supporting Variants
SamplesNA18863
Known GenesCEBPA, CEBPA-AS1, CEBPG, CHST8, KCTD15, PEPD
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv9767
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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