A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv683n27



Internal ID20132941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186008072..186210350hg38UCSC Ensembl
chr4:186929226..187131504hg19UCSC Ensembl
chr4:187166220..187368498hg18UCSC Ensembl
chr4:187304375..187506653hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38202279
hg19202279
hg18202279
hg17202279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461860, nsv461861, nsv461863
SamplesHGDP00191, HGDP00066, HGDP00264
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
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)dgv683n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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