A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv289n27



Internal ID22767018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24059521..24287455hg38UCSC Ensembl
chr15:24304668..24532602hg19UCSC Ensembl
chr15:21855761..22083695hg18UCSC Ensembl
chr15:21855761..22083695hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38227935
hg19227935
hg18227935
hg17227935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456644, nsv456646, nsv456647
SamplesHGDP00574, 1782681099_A, HGDP00313
Known GenesPWRN2
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)dgv289n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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