A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1078e201



Internal ID11594922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23056322..23056485hg38UCSC Ensembl
chr7:23095941..23096104hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2734125, esv2734127
SamplesSSM027, SSM040, SSM035, SSM029
Known Genes
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)dgv1078e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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