A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv636n27



Internal ID20132894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1165892..1261142hg38UCSC Ensembl
chr4:1159680..1254930hg19UCSC Ensembl
chr4:1149680..1244930hg18UCSC Ensembl
chr4:1149510..1244760hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3895251
hg1995251
hg1895251
hg1795251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461151, nsv461154, nsv461153
SamplesHGDP00546, NINDS_64, HGDP00788
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, SPON2
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)dgv636n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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