A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733652



Internal ID10317288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:690095..692334hg38UCSC Ensembl
Outerchr7:729732..731971hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382240
hg192240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748884, essv6778369
SamplesSSM067, SSM056
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)esv2733652
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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