A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv881n27



Internal ID20133139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22094715..22163524hg38UCSC Ensembl
chr8:21952226..22021037hg19UCSC Ensembl
chr8:22008172..22076982hg18UCSC Ensembl
chr8:22008172..22076982hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3868810
hg1968812
hg1868811
hg1768811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465614, nsv465615, nsv465618
SamplesHGDP00961, HGDP00784, HGDP00776
Known GenesFAM160B2, HR, LGI3, NUDT18, REEP4, SFTPC
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)dgv881n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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