A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13018



Internal ID9967452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46795320..47075057hg38UCSC Ensembl
Innerchr10:46476965..46754274hg19UCSC Ensembl
Innerchr10:45896971..46174280hg18UCSC Ensembl
Innerchr10:45896971..46174280hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38279738
hg19277310
hg18277310
hg17277310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758217
Supporting Variants
SamplesNA18859
Known GenesBMS1P1, BMS1P5, FRMPD2P1, PTPN20A, PTPN20B
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)essv13018
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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