A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726752



Internal ID9961060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1092989..1093058hg38UCSC Ensembl
Outerchr4:1086777..1086846hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962698, essv6848166
SamplesSSM027, SSM086
Known GenesRNF212
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)esv2726752
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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