A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv377n27



Internal ID22767106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:1972345..2075914hg38UCSC Ensembl
chr18:1972346..2075915hg19UCSC Ensembl
chr18:1962346..2065915hg18UCSC Ensembl
chr18:1962346..2065915hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38103570
hg19103570
hg18103570
hg17103570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458010, nsv458009
SamplesHGDP01094, HGDP00472
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)dgv377n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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