A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv184e201



Internal ID20125071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253847..32254549hg38UCSC Ensembl
chr12:32406781..32407483hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745740, esv2745738
SamplesSSM011, SSM065, SSM093, SSM074, SSM028, SSM047, SSM029, SSM089, SSM017, SSM014, SSM020, SSM091
Known GenesBICD1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv184e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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