A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779201



Internal ID9838076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110720465..110720919hg38UCSC Ensembl
Outerchr10:112480223..112480677hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740829, esv2740840
Supporting Variants
SamplesSSM067
Known GenesRBM20
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)essv6779201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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