A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728030



Internal ID10311666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99004252..99004688hg38UCSC Ensembl
Outerchr4:99925403..99925839hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825928, essv6884141, essv6670373, essv6930005
SamplesSSM031, SSM020, SSM080, SSM012
Known GenesMETAP1
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)esv2728030
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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