A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721084



Internal ID10304720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197718764..197721796hg38UCSC Ensembl
Outerchr1:197687894..197690926hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789303, essv6859366, essv6951529, essv6742267, essv6868837, essv6759177, essv6719909, essv6933454, essv6902673, essv6733596, essv6749876, essv6697095
SamplesSSM008, SSM038, SSM013, SSM088, SSM090, SSM021, SSM061, SSM007, SSM053, SSM070, SSM004, SSM049
Known GenesDENND1B
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)esv2721084
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