A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758305



Internal ID9980382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..38641234hg38UCSC Ensembl
Innerchr12:37856695..39035036hg19UCSC Ensembl
Innerchr12:36142962..37321303hg18UCSC Ensembl
Innerchr12:36142962..37321303hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381178342
hg191178342
hg181178342
hg171178342
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759893
Supporting Variantsessv20020, essv7229, essv863, essv4858, essv22991, essv9452
SamplesNA07357, NA18547, NA07048, NA19208, NA19000, NA18540
Known GenesALG10B
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)esv2758305
Frequency
Sample Size270
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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