A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736729



Internal ID9971061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51818709..51819058hg38UCSC Ensembl
Outerchr10:53578469..53578818hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944566, essv6823327, essv6862001, essv6672656, essv6970458, essv6779156, essv6882092, essv6799890
SamplesSSM088, SSM031, SSM072, SSM067, SSM094, SSM028, SSM023, SSM079
Known GenesPRKG1
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)esv2736729
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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