A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1338n100



Internal ID19011706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1835319..1878079hg38UCSC Ensembl
chr12:1944485..1987245hg19UCSC Ensembl
chr12:1814746..1857506hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3842761
hg1942761
hg1842761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038395, nsv1051770, nsv1036795, nsv1038109, nsv1040260
Samples
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1338n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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