A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758382



Internal ID9633841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50990060..51538142hg38UCSC Ensembl
Innerchr15:51282257..51830339hg19UCSC Ensembl
Innerchr15:49069549..49617631hg18UCSC Ensembl
Innerchr15:49069549..49617631hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38548083
hg19548083
hg18548083
hg17548083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760031
Supporting Variantsessv880
SamplesNA19000
Known GenesAP4E1, CYP19A1, DMXL2, GLDN, MIR4713, TNFAIP8L3
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)esv2758382
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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