A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4n27



Internal ID20132262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10613137..10736809hg38UCSC Ensembl
chr1:10673194..10796866hg19UCSC Ensembl
chr1:10595781..10719453hg18UCSC Ensembl
chr1:10607460..10731132hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38123673
hg19123673
hg18123673
hg17123673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465061, nsv464505
Samples1780862093_A, 1780862573_A
Known GenesCASZ1, PEX14
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)dgv4n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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