A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734115



Internal ID9968441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21548072..21548238hg38UCSC Ensembl
Outerchr7:21587690..21587856hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890379, essv6818478, essv6822640, essv6799094, essv6671446, essv6964097
SamplesSSM027, SSM079, SSM097, SSM031, SSM072, SSM078
Known GenesDNAH11
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)esv2734115
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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