A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758888



Internal ID9634347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119823476..120195131hg38UCSC Ensembl
InnerchrX:118957439..119328984hg19UCSC Ensembl
InnerchrX:118841467..119213012hg18UCSC Ensembl
InnerchrX:118739321..119110866hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38371656
hg19371546
hg18371546
hg17371546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758586
SamplesNA18521, NA18860, NA19239
Known GenesAKAP14, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, UPF3B
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)esv2758888
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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