A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2243n100



Internal ID22788330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20327352..20538504hg38UCSC Ensembl
chr15:20532605..20743782hg19UCSC Ensembl
chr15:18792619..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38211153
hg19211178
hg18211178
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041838, nsv1043145, nsv1040537, nsv1043615, nsv1054640, nsv1042186, nsv1039582, nsv1047584, nsv1039022, nsv1053269, nsv1053394
Samples
Known GenesGOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2243n100
Frequency
Sample Size11257
Observed Gain37
Observed Loss45
Observed Complex0
Frequencyn/a


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