A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv197n27



Internal ID20132455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39552552..39648418hg38UCSC Ensembl
chr12:39946354..40042220hg19UCSC Ensembl
chr12:38232621..38328487hg18UCSC Ensembl
chr12:38232621..38328487hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895867
hg1995867
hg1895867
hg1795867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469359, nsv469361
SamplesHGDP01414, HGDP00994
Known GenesABCD2, C12orf40
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)dgv197n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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