A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16212



Internal ID9613906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148212834..148436878hg38UCSC Ensembl
Innerchr1:147685111..147908988hg19UCSC Ensembl
Innerchr1:146151735..146375612hg18UCSC Ensembl
Innerchr1:144800023..145023900hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38224045
hg19223878
hg18223878
hg17223878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA19161
Known GenesLINC01138, LOC100130000, MIR5087, MIR6077-1, MIR6077-2, NBPF10, NBPF8
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)essv16212
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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