A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735192



Internal ID10318828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135796879..135797594hg38UCSC Ensembl
Outerchr7:135481627..135482342hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751869, essv6866023, essv6907949, essv6976594, essv6701474, essv6667748, essv6760300, essv6740294, essv6855760, essv6975422, essv6687558, essv6763908, essv6798498, essv6964299, essv6935103, essv6818647
SamplesSSM008, SSM027, SSM087, SSM039, SSM009, SSM057, SSM021, SSM061, SSM029, SSM089, SSM035, SSM001, SSM014, SSM078, SSM052, SSM030
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)esv2735192
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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