A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv171n27



Internal ID20132429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134288851..134340635hg38UCSC Ensembl
chr11:134158745..134210529hg19UCSC Ensembl
chr11:133663955..133715739hg18UCSC Ensembl
chr11:133663955..133715739hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3851785
hg1951785
hg1851785
hg1751785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468907, nsv468906, nsv468903, nsv468909
SamplesHGDP00775, HGDP00205, HGDP00031, NINDS_26
Known GenesGLB1L2, GLB1L3
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)dgv171n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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