A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16241



Internal ID9613938
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 StatusS
Merged Variantsesv2758244
Supporting Variants
SamplesNA19161
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)essv16241
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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