A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19906



Internal ID9960479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48176095..48352142hg19UCSC Ensembl
Innerchr10:47796101..47972148hg18UCSC Ensembl
Innerchr10:47796101..47972148hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19176048
hg18176048
hg17176048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA12813
Known GenesAGAP9, ANXA8, BMS1P2, BMS1P6, FAM25C, FAM25G
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)essv19906
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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