A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889627



Internal ID9937460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1095303..1096443hg38UCSC Ensembl
Outerchr4:1089091..1090231hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726759, esv2726757, esv2726755
Supporting Variants
SamplesSSM097
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)essv6889627
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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