A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv234n27



Internal ID20132492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78566708..78642283hg38UCSC Ensembl
chr13:79140843..79216418hg19UCSC Ensembl
chr13:78038844..78114419hg18UCSC Ensembl
chr13:78038844..78114419hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3875576
hg1975576
hg1875576
hg1775576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455995, nsv455994
Samples1780862444_A, 1780862306_A
Known GenesPOU4F1, RNF219, RNF219-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv234n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer