A curated catalogue of human genomic structural variation




Variant Details

Variant: essv441



Internal ID9625985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84046870..84229007hg38UCSC Ensembl
Innerchr15:84715622..84897759hg19UCSC Ensembl
Innerchr15:82506626..82688763hg18UCSC Ensembl
Innerchr15:82506626..82688763hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38182138
hg19182138
hg18182138
hg17182138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758392
Supporting Variants
SamplesNA18952
Known GenesDNM1P41, EFTUD1P1, LOC100505679, LOC388152, LOC440300, LOC642423
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)essv441
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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