A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758387



Internal ID9633846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:73922773..74172575hg38UCSC Ensembl
Innerchr15:74215114..74464916hg19UCSC Ensembl
Innerchr15:72002167..72251969hg18UCSC Ensembl
Innerchr15:72002167..72251969hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38249803
hg19249803
hg18249803
hg17249803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760040
Supporting Variantsessv11247, essv13683, essv23056, essv12604, essv20902, essv23884
SamplesNA19204, NA12814, NA12801, NA19098, NA12812, NA19119
Known GenesGOLGA6A, ISLR2, LOC283731, LOXL1, LOXL1-AS1, PML, STOML1
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)esv2758387
Frequency
Sample Size270
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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