A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv660n27



Internal ID20132918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86057929..86058774hg38UCSC Ensembl
chr4:86979082..86979927hg19UCSC Ensembl
chr4:87198106..87198951hg18UCSC Ensembl
chr4:87336261..87337106hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38846
hg19846
hg18846
hg17846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461570, nsv461571, nsv461573, nsv461569, nsv461568
SamplesHGDP00627, HGDP01033, HGDP00994, NINDS_100, HGDP00643
Known GenesMAPK10
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)dgv660n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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