A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21512



Internal ID9619795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148333596..148513308hg38UCSC Ensembl
Innerchr1:147805720..147985535hg19UCSC Ensembl
Innerchr1:146272344..146452159hg18UCSC Ensembl
Innerchr1:144920632..145100447hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38179713
hg19179816
hg18179816
hg17179816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA12873
Known GenesLINC01138, LOC100130000, MIR5087, 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)essv21512
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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