A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727748



Internal ID9962060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65531429..65531802hg38UCSC Ensembl
Outerchr4:66397147..66397520hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722801, essv6670296, essv6956165, essv6910860, essv6973876, essv6968839, essv6785906, essv6707973
SamplesSSM031, SSM045, SSM041, SSM028, SSM029, SSM069, SSM015, SSM026
Known GenesEPHA5
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)esv2727748
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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