A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727480



Internal ID10311116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40982182..40982379hg38UCSC Ensembl
Outerchr4:40984199..40984396hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903226, essv6785847
SamplesSSM013, SSM069
Known GenesAPBB2
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)esv2727480
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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