A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv429n27



Internal ID18991439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53097592..53124524hg38UCSC Ensembl
chr19:53600845..53627777hg19UCSC Ensembl
chr19:58292657..58319589hg18UCSC Ensembl
chr19:58292657..58319589hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3826933
hg1926933
hg1826933
hg1726933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458760, nsv458758
Samples1798860292_A, HGDP00214
Known GenesZNF160, ZNF415
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)dgv429n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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