A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2207n100



Internal ID22788294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20190264..20738717hg38UCSC Ensembl
chr15:20395517..20944046hg19UCSC Ensembl
chr15:18655531..19204074hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38548454
hg19548530
hg18548544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038428, nsv1055060, nsv1040875, nsv1046897, nsv1041430, nsv1049792
Samples
Known GenesCHEK2P2, GOLGA6L6, 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)dgv2207n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer