A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3070



Internal ID9624497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34306400..34696046hg38UCSC Ensembl
Innerchr15:34598601..34988247hg19UCSC Ensembl
Innerchr15:32385893..32775539hg18UCSC Ensembl
Innerchr15:32385893..32775539hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38389647
hg19389647
hg18389647
hg17389647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758376
Supporting Variants
SamplesNA18981
Known GenesGOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, MIR5588, NOP10, NUTM1, SLC12A6
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)essv3070
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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