A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv476n27



Internal ID18991486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131319806..131540895hg38UCSC Ensembl
chr2:132077379..132298468hg19UCSC Ensembl
chr2:131793849..132014938hg18UCSC Ensembl
chr2:131911111..132132200hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38221090
hg19221090
hg18221090
hg17221090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459374, nsv459385
SamplesHGDP00986, HGDP00460
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
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)dgv476n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer