A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2193n100



Internal ID22788280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..22308242hg38UCSC Ensembl
chr15:20203949..22681064hg19UCSC Ensembl
chr15:18463963..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382309547
hg192477116
hg181768466
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054915, nsv1037373, nsv1042088, nsv1045859, nsv1055023, nsv1040529, nsv1044575, nsv1046229, nsv1045207, nsv1038245, nsv1051517, nsv1046488, nsv1052319, nsv1043919, nsv1044323, nsv1041241, nsv1046380, nsv1042516, nsv1049263, nsv1044865, nsv1044998, nsv1049400, nsv1049428, nsv1045157, nsv1053705, nsv1053677, nsv1038509, nsv1042894, nsv1054450, nsv1047442, nsv1047596, nsv1045697, nsv1043225, nsv1048403, nsv1042050
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, 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)dgv2193n100
Frequency
Sample Size11257
Observed Gain308
Observed Loss178
Observed Complex0
Frequencyn/a


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