A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758371



Internal ID9633830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24009191..24655767hg38UCSC Ensembl
Innerchr15:24254338..24900914hg19UCSC Ensembl
Innerchr15:21805431..22452007hg18UCSC Ensembl
Innerchr15:21805431..22452007hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38646577
hg19646577
hg18646577
hg17646577
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760018
Supporting Variantsessv16899, essv23951, essv14470, essv16475, essv22238, essv12527, essv4177, essv1593, essv6220, essv535, essv6666, essv24520
SamplesNA18998, NA12814, NA19201, NA12802, NA18942, NA12044, NA19207, NA19205, NA18555, NA18608, NA18636, NA19139
Known GenesPWRN1, PWRN2
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)esv2758371
Frequency
Sample Size270
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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