A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9137



Internal ID9631237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119823476..119947570hg38UCSC Ensembl
InnerchrX:118957439..119081533hg19UCSC Ensembl
InnerchrX:118841467..118965561hg18UCSC Ensembl
InnerchrX:118739321..118863415hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38124095
hg19124095
hg18124095
hg17124095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758586
Supporting Variants
SamplesNA18860
Known GenesAKAP14, NDUFA1, NKAP, 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)essv9137
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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