A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2233n100



Internal ID22788320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20293418..20793234hg38UCSC Ensembl
chr15:20498671..20998563hg19UCSC Ensembl
chr15:18758685..19258613hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38499817
hg19499893
hg18499929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039916, nsv1041886, nsv1043623, nsv1046156, nsv1039370, nsv1041203, nsv1050673, nsv1036974, nsv1049329, nsv1041390, nsv1051257, nsv1050380, nsv1035706, nsv1051804, nsv1052285, nsv1035204, nsv1049323, nsv1038639, nsv1044863, nsv1042949, nsv1036384, nsv1046942, nsv1051872, nsv1054015, nsv1053728, nsv1047423, nsv1047349, nsv1042041, nsv1038344, nsv1044379, nsv1042638, nsv1043588, nsv1041787, nsv1054936, nsv1054538
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2233n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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