A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1287n100



Internal ID22787374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120359534..120428889hg38UCSC Ensembl
chr11:120230243..120299598hg19UCSC Ensembl
chr11:119735453..119804808hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3869356
hg1969356
hg1869356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046430, nsv1043248, nsv1050789, nsv1036694, nsv1037573
Samples
Known GenesARHGEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1287n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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