A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1358n100



Internal ID19011726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8165227..8451181hg38UCSC Ensembl
chr12:8317823..8603777hg19UCSC Ensembl
chr12:8209090..8495044hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38285955
hg19285955
hg18285955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036525, nsv1036867, nsv1049334, nsv1040962, nsv1048534, nsv1050342
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1358n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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