A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758309



Internal ID9633768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53953285..54140862hg38UCSC Ensembl
Innerchr12:54347069..54534646hg19UCSC Ensembl
Innerchr12:52633336..52820913hg18UCSC Ensembl
Innerchr12:52633336..52820913hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38187578
hg19187578
hg18187578
hg17187578
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759900
Supporting Variantsessv20928, essv15041, essv877
SamplesNA12801, NA19000, NA19129
Known GenesFLJ12825, HOTAIR, HOXC10, HOXC11, HOXC12, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC-AS1, HOXC-AS2, LOC100240734, LOC100240735, LOC400043, MIR196A2, MIR615
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)esv2758309
Frequency
Sample Size270
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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