A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680121



Internal ID9992569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:666027..666498hg38UCSC Ensembl
Outerchr7:705664..706135hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733648
Supporting Variants
SamplesSSM005
Known GenesPRKAR1B
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)essv6680121
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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