A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2300n100



Internal ID19012668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20638246..21005431hg38UCSC Ensembl
chr15:20843550..21210760hg19UCSC Ensembl
chr15:19103564..19475419hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38367186
hg19367211
hg18371856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054031, nsv1051006, nsv1039907, nsv1051567, nsv1041958, nsv1037155, nsv1048858, nsv1045500
Samples
Known GenesCT60, CXADRP2, 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)dgv2300n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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