A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19509



Internal ID9617568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1496135..1698610hg38UCSC Ensembl
Innerchr20:1476781..1679256hg19UCSC Ensembl
Innerchr20:1424781..1627256hg18UCSC Ensembl
Innerchr20:1424781..1627256hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38202476
hg19202476
hg18202476
hg17202476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758509
Supporting Variants
SamplesNA12864
Known GenesSIRPB1, SIRPD, SIRPG
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)essv19509
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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