A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1349n100



Internal ID20152965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7274380..7336757hg38UCSC Ensembl
chr12:7426976..7489353hg19UCSC Ensembl
chr12:7318243..7380620hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862378
hg1962378
hg1862378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055054, nsv1054518
Samples
Known GenesACSM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1349n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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