A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758574



Internal ID9634033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71651403..72080566hg38UCSC Ensembl
InnerchrX:70871253..71300416hg19UCSC Ensembl
InnerchrX:70787978..71217141hg18UCSC Ensembl
InnerchrX:70654274..71083437hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38429164
hg19429164
hg18429164
hg17429164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758872
Supporting Variantsessv11761, essv6290, essv16201
SamplesNA18504, NA19161, NA18636
Known GenesBCYRN1, CXorf49, CXorf49B, LINC00891, LOC100132741, NHSL2, RPS26P11
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)esv2758574
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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