A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1360n100



Internal ID22787447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8204911..8453233hg38UCSC Ensembl
chr12:8357507..8605829hg19UCSC Ensembl
chr12:8248774..8497096hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38248323
hg19248323
hg18248323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054850, nsv1040012, nsv1042364, nsv1043700, nsv1046231, nsv1050955, nsv1039971, nsv1054161, nsv1043254, nsv1052610, nsv1050081, nsv1050188
Samples
Known GenesFAM86FP, FAM90A1, LINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1360n100
Frequency
Sample Size11257
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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