A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727930



Internal ID9962242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86046015..86046517hg38UCSC Ensembl
Outerchr4:86967168..86967670hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791443, essv6794197, essv6700534, essv6968865, essv6899309, essv6869359, essv6822654, essv6934206, essv6853486, essv6825911
SamplesSSM100, SSM071, SSM039, SSM009, SSM002, SSM028, SSM090, SSM021, SSM080, SSM010
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)esv2727930
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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