A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726756



Internal ID9961064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1095139..1095698hg38UCSC Ensembl
Outerchr4:1088927..1089486hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv801e201
Supporting Variantsessv6848167, essv6813793, essv6914568, essv6836850
SamplesSSM083, SSM086, SSM016, SSM077
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)esv2726756
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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