A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734113



Internal ID9968439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21505556..21552811hg38UCSC Ensembl
Outerchr7:21545174..21592429hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3847256
hg1947256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890379, essv6861117, essv6818478, essv6822640, essv6799094, essv6671446, essv6964097, essv6968373
SamplesSSM027, SSM079, SSM097, SSM088, SSM031, SSM001, SSM072, SSM078
Known GenesDNAH11, SP4
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)esv2734113
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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