A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv154n27



Internal ID20132412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67605006..67666398hg38UCSC Ensembl
chr11:67372477..67433869hg19UCSC Ensembl
chr11:67129053..67190445hg18UCSC Ensembl
chr11:67129053..67190445hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3861393
hg1961393
hg1861393
hg1761393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468607, nsv468608
Samples1780862003_A, 1780862484_A
Known GenesACY3, ALDH3B2, DOC2GP, NDUFV1, NUDT8, TBX10
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)dgv154n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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