A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726849



Internal ID9961157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2442797..2443160hg38UCSC Ensembl
Outerchr4:2444524..2444887hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv806e201
Supporting Variantsessv6785786, essv6670134, essv6829656, essv6850187
SamplesSSM011, SSM069, SSM031, SSM081
Known GenesLOC402160
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)esv2726849
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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