A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv245n27



Internal ID22766974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:40441476..40461772hg38UCSC Ensembl
chr14:40910680..40930976hg19UCSC Ensembl
chr14:39980430..40000726hg18UCSC Ensembl
chr14:39980430..40000726hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3820297
hg1920297
hg1820297
hg1720297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456214, nsv456215
SamplesHGDP00828, NINDS_97
Known Genes
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)dgv245n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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