A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2236n100



Internal ID22788323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20305889..20649173hg38UCSC Ensembl
chr15:20511142..20854501hg19UCSC Ensembl
chr15:18771156..19114515hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38343285
hg19343360
hg18343360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050203, nsv1036584, nsv1050335, nsv1045813, nsv1041223, nsv1037049, nsv1037429, nsv1043904, nsv1054513, nsv1051287, nsv1052060, nsv1048139, nsv1047820, nsv1055033, nsv1035976, nsv1047459, nsv1040282, nsv1053397, nsv1043095, nsv1041866, nsv1050131, nsv1046880, nsv1039926, nsv1039501, nsv1052124
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2236n100
Frequency
Sample Size11257
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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