A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv65n50



Internal ID22767894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115306992..115310755hg38UCSC Ensembl
chrX:114541557..114545320hg19UCSC Ensembl
chrX:114447813..114451576hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383764
hg193764
hg183764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv511666, nsv512693
Samples1
Known GenesLUZP4
MethodSequencing
SNP array
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
Analysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Not reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)dgv65n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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