A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6n27



Internal ID20132264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12775725..12854043hg38UCSC Ensembl
chr1:12835868..12913896hg19UCSC Ensembl
chr1:12758455..12836483hg18UCSC Ensembl
chr1:12770134..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878319
hg1978029
hg1878029
hg1778029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466616, nsv466949, nsv466838
SamplesHGDP01366, HGDP00952, 1780862077_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
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)dgv6n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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