A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv589n27



Internal ID22767318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4046892..4059672hg38UCSC Ensembl
chr3:4088576..4101356hg19UCSC Ensembl
chr3:4063576..4076356hg18UCSC Ensembl
chr3:4063576..4076356hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3812781
hg1912781
hg1812781
hg1712781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460341, nsv460340, nsv460338, nsv460343, nsv460342
Samples1782681313_A, NINDS_115, HGDP01357, NINDS_223, NINDS_51
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)dgv589n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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