A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727932



Internal ID9962244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86145028..86145628hg38UCSC Ensembl
Outerchr4:87066181..87066781hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742763, essv6860237
SamplesSSM053, SSM088
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)esv2727932
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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