A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv596n27



Internal ID22767325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8779046..8821239hg38UCSC Ensembl
chr3:8820732..8862925hg19UCSC Ensembl
chr3:8795732..8837925hg18UCSC Ensembl
chr3:8795732..8837925hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3842194
hg1942194
hg1842194
hg1742194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460408, nsv460403, nsv460418, nsv460404, nsv460396, nsv460392, nsv460399, nsv460387, nsv460378, nsv460380, nsv460391, nsv460405, nsv460397, nsv460402, nsv460379, nsv460409, nsv460388, nsv460401, nsv460389, nsv460390, nsv460393, nsv460407, nsv460400, nsv460416, nsv460398
SamplesHGDP00143, HGDP01380, 1780862530_A, 1780854401_A, HGDP00092, 1780854219_A, 1780862521_A, NINDS_94, HGDP00072, HGDP00891, NINDS_124, 1780854118_A, NINDS_51, HGDP00882, NINDS_193, NINDS_102, HGDP00148, NINDS_200, 1780862578_A, HGDP01400, 1780862089_A, HGDP00584, NINDS_73, HGDP00341, NINDS_12
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)dgv596n27
Frequency
Sample Size1557
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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