A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3142



Internal ID9624577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148359881..148587535hg38UCSC Ensembl
Innerchr1:147832014..148026038hg19UCSC Ensembl
Innerchr1:146298638..146492662hg18UCSC Ensembl
Innerchr1:144946926..145140950hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38227655
hg19194025
hg18194025
hg17194025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA18969
Known GenesLINC01138, LOC100130000, MIR6077-1, MIR6077-2, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)essv3142
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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