A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv208n27



Internal ID22766937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84855439..84945475hg38UCSC Ensembl
chr12:85249218..85339254hg19UCSC Ensembl
chr12:83773349..83863385hg18UCSC Ensembl
chr12:83751686..83841722hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3890037
hg1990037
hg1890037
hg1790037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455668, nsv455667
Samples1780862194_A, 1782681093_A
Known GenesSLC6A15
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)dgv208n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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