A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733648



Internal ID10317284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:665790..666737hg38UCSC Ensembl
Outerchr7:705427..706374hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797076, essv6869910, essv6872910, essv6762431, essv6794840, essv6743306, essv6737104, essv6778368, essv6680121, essv6746069
SamplesSSM008, SSM071, SSM009, SSM050, SSM090, SSM067, SSM053, SSM005, SSM091, SSM055
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)esv2733648
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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