A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2214n100



Internal ID22788301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20190264..22300068hg38UCSC Ensembl
chr15:20395517..22588019hg19UCSC Ensembl
chr15:18655531..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382109805
hg192192503
hg181433853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035207, nsv1044811, nsv1054663, nsv1045623, nsv1052394, nsv1049823, nsv1041366, nsv1038389, nsv1048348, nsv1038994, nsv1043462, nsv1046790, nsv1047583, nsv1035238, nsv1044942, nsv1037899, nsv1037424, nsv1041285, nsv1053310, nsv1037930, nsv1046348, nsv1055134, nsv1054119, nsv1043520, nsv1042509, nsv1037634, nsv1039963, nsv1045806, nsv1047187, nsv1043281, nsv1047848, nsv1049546, nsv1040414, nsv1050760, nsv1045653, nsv1045562, nsv1038417, nsv1048398, nsv1041641
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2214n100
Frequency
Sample Size11257
Observed Gain48
Observed Loss0
Observed Complex0
Frequencyn/a


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