A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5728



Internal ID9965139
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758320
Supporting Variants
SamplesNA18593
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)essv5728
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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