A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2179n100



Internal ID20153795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19950373..22472558hg38UCSC Ensembl
chr15:20155626..22821170hg19UCSC Ensembl
chr15:18415640..20372534hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382522186
hg192665545
hg181956895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046567, nsv1043835, nsv1052142, nsv1048273, nsv1044668, nsv1046593, nsv1039339, nsv1053901, nsv1046285, nsv1044327, nsv1038286, nsv1051035, nsv1045577, nsv1042278, nsv1041701, nsv1047451, nsv1053834, nsv1050636, nsv1051295, nsv1037267, nsv1049299, nsv1051075, nsv1044165, nsv1036068, nsv1048911, nsv1053652, nsv1036304, nsv1053335, nsv1040881, nsv1046043, nsv1035210, nsv1038944
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, 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)dgv2179n100
Frequency
Sample Size29084
Observed Gain65
Observed Loss0
Observed Complex0
Frequencyn/a


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