A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758299



Internal ID9633758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22186365..22583973hg38UCSC Ensembl
Innerchr12:22339299..22736907hg19UCSC Ensembl
Innerchr12:22230566..22628174hg18UCSC Ensembl
Innerchr12:22230566..22628174hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38397609
hg19397609
hg18397609
hg17397609
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759883
Supporting Variantsessv12236, essv14178, essv10260
SamplesNA19101, NA19140, NA18506
Known GenesC2CD5, ST8SIA1
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)esv2758299
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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