A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18092



Internal ID9958209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46105610..46643685hg19UCSC Ensembl
Innerchr10:45425616..46063691hg18UCSC Ensembl
Innerchr10:45425616..46063691hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg19538076
hg18638076
hg17638076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA12145
Known GenesAGAP4, FAM21C, PTPN20A, PTPN20B, ZFAND4
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)essv18092
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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