A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv190n27



Internal ID22766919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28375375..28443396hg38UCSC Ensembl
chr12:28528308..28596329hg19UCSC Ensembl
chr12:28419575..28487596hg18UCSC Ensembl
chr12:28419575..28487596hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3868022
hg1968022
hg1868022
hg1768022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469184, nsv469182
SamplesHGDP01385, 1780862576_A
Known GenesCCDC91
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)dgv190n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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