A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2188n100



Internal ID22788275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19998696..21005431hg38UCSC Ensembl
chr15:20203949..21210760hg19UCSC Ensembl
chr15:18463963..19475419hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381006736
hg191006812
hg181011457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038794, nsv1051642, nsv1044203, nsv1053642
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2188n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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