A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727900



Internal ID10311536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:83100498..83100668hg38UCSC Ensembl
Outerchr4:84021651..84021821hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv846e201
Supporting Variantsessv6777727
SamplesSSM067
Known GenesPLAC8
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)esv2727900
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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