A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv221n27



Internal ID22766950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20398414..20521581hg38UCSC Ensembl
chr13:20972553..21095720hg19UCSC Ensembl
chr13:19870553..19993720hg18UCSC Ensembl
chr13:19870553..19993720hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38123168
hg19123168
hg18123168
hg17123168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455833, nsv455834
SamplesHGDP00814, HGDP00821
Known GenesCRYL1, MIR4499
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)dgv221n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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