A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv404n27



Internal ID20132662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20651291..20804744hg38UCSC Ensembl
chr19:20834097..20987550hg19UCSC Ensembl
chr19:20625937..20779390hg18UCSC Ensembl
chr19:20625937..20779390hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38153454
hg19153454
hg18153454
hg17153454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458516, nsv458515, nsv458524, nsv458514
Samples1782681317_A, 1780862408_A, NINDS_110, 1780854063_A
Known GenesZNF626
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)dgv404n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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