A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv211n27



Internal ID22766940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107986225..108095158hg38UCSC Ensembl
chr12:108380002..108488935hg19UCSC Ensembl
chr12:106904132..107013065hg18UCSC Ensembl
chr12:106882469..106991402hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38108934
hg19108934
hg18108934
hg17108934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455706, nsv455709, nsv455710
SamplesHGDP01384, NINDS_210, 1780862095_A
Known Genes
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)dgv211n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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