A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726963



Internal ID10310599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4147699..4148129hg38UCSC Ensembl
Outerchr4:4149426..4149856hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789908, essv6854353, essv6844477
SamplesSSM087, SSM085, SSM070
Known Genes
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)esv2726963
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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