A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16201



Internal ID9613894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71651403..72051964hg38UCSC Ensembl
InnerchrX:70871253..71271814hg19UCSC Ensembl
InnerchrX:70787978..71188539hg18UCSC Ensembl
InnerchrX:70654274..71054835hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38400562
hg19400562
hg18400562
hg17400562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758574
Supporting Variants
SamplesNA19161
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)essv16201
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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