A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7210



Internal ID9629097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33840062..34039835hg38UCSC Ensembl
Innerchr12:33992997..34192770hg19UCSC Ensembl
Innerchr12:33884264..34084037hg18UCSC Ensembl
Innerchr12:33884264..34084037hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38199774
hg19199774
hg18199774
hg17199774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758304
Supporting Variants
SamplesNA18547
Known GenesALG10
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)essv7210
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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