A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv449n27



Internal ID20132707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39924742..39981525hg38UCSC Ensembl
chr2:40151882..40208665hg19UCSC Ensembl
chr2:40005386..40062169hg18UCSC Ensembl
chr2:40063533..40120316hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3856784
hg1956784
hg1856784
hg1756784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456407, nsv456385
SamplesHGDP00428, HGDP00146
Known GenesSLC8A1-AS1
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)dgv449n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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