A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727846



Internal ID9962158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:76608453..76608897hg38UCSC Ensembl
Outerchr4:77529606..77530050hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730433, essv6922622
SamplesSSM047, SSM018
Known GenesSHROOM3
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)esv2727846
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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