A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758244



Internal ID9633703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125765331..126098133hg38UCSC Ensembl
Innerchr10:127453900..127786702hg19UCSC Ensembl
Innerchr10:127443890..127776692hg18UCSC Ensembl
Innerchr10:127443890..127776692hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38332803
hg19332803
hg18332803
hg17332803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759788
Supporting Variantsessv16241, essv15061
SamplesNA19161, NA19129
Known GenesADAM12, BCCIP, DHX32, FANK1, FANK1-AS1, MIR4484, MMP21, UROS
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)esv2758244
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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