A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3728



Internal ID9625227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34306400..34618976hg38UCSC Ensembl
Innerchr15:34598601..34911177hg19UCSC Ensembl
Innerchr15:32385893..32698469hg18UCSC Ensembl
Innerchr15:32385893..32698469hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38312577
hg19312577
hg18312577
hg17312577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758376
Supporting Variants
SamplesNA18947
Known GenesGOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, 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)essv3728
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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