A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv188n27



Internal ID22766917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19316144..19432926hg38UCSC Ensembl
chr12:19469078..19585860hg19UCSC Ensembl
chr12:19360345..19477127hg18UCSC Ensembl
chr12:19360345..19477127hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38116783
hg19116783
hg18116783
hg17116783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469136, nsv469139, nsv469143, nsv469145, nsv469155, nsv469140, nsv469142, nsv469156, nsv469144, nsv469141, nsv469137
SamplesHGDP01385, NINDS_18, 1798860210_A, 1780854219_A, 1782681091_A, NINDS_45, HGDP01279, 1780854202_A, 1780862373_A, 1780862111_A, NINDS_181
Known GenesPLEKHA5
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)dgv188n27
Frequency
Sample Size1557
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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