A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758320



Internal ID9633779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129461919..130631031hg38UCSC Ensembl
Innerchr12:129946464..131115576hg19UCSC Ensembl
Innerchr12:128512417..129681529hg18UCSC Ensembl
Innerchr12:128471344..129640456hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381169113
hg191169113
hg181169113
hg171169113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759921
Supporting Variantsessv5728, essv11539
SamplesNA18593, NA19173
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
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)esv2758320
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer