A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739640



Internal ID9973981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:93445985..93447262hg38UCSC Ensembl
Outerchr10:95205742..95207019hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716505
SamplesSSM043
Known GenesMYOF
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)esv2739640
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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