A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726848



Internal ID9961156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2442789..2442965hg38UCSC Ensembl
Outerchr4:2444516..2444692hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv807e201
Supporting Variantsessv6711291, essv6829656
SamplesSSM042, 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)esv2726848
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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