A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv425n27



Internal ID20132683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51784199..52104512hg38UCSC Ensembl
chr19:52287452..52607765hg19UCSC Ensembl
chr19:56979264..57299577hg18UCSC Ensembl
chr19:56979264..57299577hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38320314
hg19320314
hg18320314
hg17320314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458736, nsv458735
Samples1780854257_A, 1780862390_A
Known GenesFPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
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)dgv425n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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