A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822654



Internal ID9660708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86046028..86046531hg38UCSC Ensembl
Outerchr4:86967181..86967684hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727930
Supporting Variants
SamplesSSM010
Known GenesMAPK10
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)essv6822654
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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