A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv441n27



Internal ID22767170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9809335..9835428hg38UCSC Ensembl
chr2:9949464..9975557hg19UCSC Ensembl
chr2:9866915..9893008hg18UCSC Ensembl
chr2:9900062..9926155hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3826094
hg1926094
hg1826094
hg1726094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469427, nsv469416
SamplesHGDP01319, 1780862014_A
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)dgv441n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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