A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv378n27



Internal ID22767107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29818668..29886212hg38UCSC Ensembl
chr18:27398633..27466177hg19UCSC Ensembl
chr18:25652631..25720175hg18UCSC Ensembl
chr18:25652631..25720175hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3867545
hg1967545
hg1867545
hg1767545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458043, nsv458042
SamplesHGDP01250, HGDP01397
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)dgv378n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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