A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2192n100



Internal ID22788279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..22300068hg38UCSC Ensembl
chr15:20203949..22588019hg19UCSC Ensembl
chr15:18463963..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382301373
hg192384071
hg181625421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053147, nsv1041742, nsv1047735, nsv1044751, nsv1045706, nsv1037799, nsv1053220, nsv1053221, nsv1044615, nsv1040398, nsv1040170, nsv1046829, nsv1048761, nsv1052795, nsv1050631, nsv1050099, nsv1040700, nsv1041396, nsv1035343, nsv1047678, nsv1040115, nsv1038454, nsv1054135, nsv1046536, nsv1052090, nsv1051528, nsv1053836, nsv1050191, nsv1040519, nsv1036480, nsv1038675, nsv1041105, nsv1052028, nsv1043175, nsv1035537, nsv1039004, nsv1043099, nsv1042047, nsv1051976
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)dgv2192n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer