A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890481



Internal ID9938229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99697929..99750482hg38UCSC Ensembl
Outerchr7:99295552..99348105hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3852554
hg1952554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734887
Supporting Variants
SamplesSSM097
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)essv6890481
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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