A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758874



Internal ID9634333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77969413..78053575hg38UCSC Ensembl
InnerchrX:77224910..77309072hg19UCSC Ensembl
InnerchrX:77111566..77195728hg18UCSC Ensembl
InnerchrX:77031055..77115217hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3884163
hg1984163
hg1884163
hg1784163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758575
SamplesNA19101
Known GenesATP7A, PGAM4
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)esv2758874
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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