A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6290



Internal ID9628074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71651403..71861362hg38UCSC Ensembl
InnerchrX:70871253..71081212hg19UCSC Ensembl
InnerchrX:70787978..70997937hg18UCSC Ensembl
InnerchrX:70654274..70864233hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38209960
hg19209960
hg18209960
hg17209960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758574
Supporting Variants
SamplesNA18636
Known GenesBCYRN1, CXorf49, CXorf49B, LINC00891, LOC100132741
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)essv6290
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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