A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv470n27



Internal ID22767199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99211270..99306504hg38UCSC Ensembl
chr2:99827733..99922967hg19UCSC Ensembl
chr2:99194165..99289399hg18UCSC Ensembl
chr2:99286251..99381485hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3895235
hg1995235
hg1895235
hg1795235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458696, nsv458685
SamplesHGDP00136, HGDP00015
Known GenesLYG1, LYG2
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)dgv470n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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