A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826044



Internal ID10226921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186292774..186293584hg38UCSC Ensembl
Outerchr4:187213928..187214738hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728935
Supporting Variants
SamplesSSM080
Known GenesF11-AS1
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)essv6826044
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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