A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727532



Internal ID9961842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47922981..47923835hg38UCSC Ensembl
Outerchr4:47924998..47925852hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748355, essv6973824, essv6805027, essv6755698
SamplesSSM008, SSM074, SSM029, SSM056
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)esv2727532
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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