A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726977



Internal ID10310613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5811579..5812130hg38UCSC Ensembl
Outerchr4:5813306..5813857hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807966, essv6947241
SamplesSSM024, SSM075
Known GenesEVC
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)esv2726977
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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