A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727796



Internal ID9962108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70926143..70934315hg38UCSC Ensembl
Outerchr4:71791860..71800032hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg388173
hg198173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883852
SamplesSSM095
Known GenesMOB1B
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)esv2727796
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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