A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758394



Internal ID9980471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85107707..85341481hg38UCSC Ensembl
Innerchr15:85650938..85884712hg19UCSC Ensembl
Innerchr15:83451942..83685716hg18UCSC Ensembl
Innerchr15:83451942..83685716hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38233775
hg19233775
hg18233775
hg17233775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760050
Supporting Variantsessv7152, essv19502, essv7542, essv22871, essv9146, essv14365, essv16655, essv13035, essv15659, essv23502, essv10140
SamplesNA18545, NA18860, NA18547, NA19130, NA12760, NA19194, NA18859, NA19142, NA18912, NA12864, NA07034
Known GenesLOC440300, LOC642423, PDE8A
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)esv2758394
Frequency
Sample Size270
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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