A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705326



Internal ID9771588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99697903..99750479hg38UCSC Ensembl
Outerchr7:99295526..99348102hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3852577
hg1952577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734887
Supporting Variants
SamplesSSM040
Known GenesCYP3A7, CYP3A7-CYP3AP1
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)essv6705326
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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