A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18285



Internal ID9616208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:140904098..141373817hg38UCSC Ensembl
InnerchrX:139986263..140467974hg19UCSC Ensembl
InnerchrX:139813929..140295640hg18UCSC Ensembl
InnerchrX:139711783..140193494hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38469720
hg19481712
hg18481712
hg17481712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758594
Supporting Variants
SamplesNA10846
Known GenesLDOC1, MIR320D2, SPANXB1, SPANXB2, SPANXC, SPANXF1
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)essv18285
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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