A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813793



Internal ID9869210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1095290..1095695hg38UCSC Ensembl
Outerchr4:1089078..1089483hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726759, esv2726757, esv2726758, esv2726756, esv2726755
Supporting Variants
SamplesSSM077
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)essv6813793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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