A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12613



Internal ID9609907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:107639971..107824354hg38UCSC Ensembl
Innerchr13:108292319..108476702hg19UCSC Ensembl
Innerchr13:107090320..107274703hg18UCSC Ensembl
Innerchr13:107090320..107274703hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38184384
hg19184384
hg18184384
hg17184384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758342
Supporting Variants
SamplesNA18500
Known GenesFAM155A
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)essv12613
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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