A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851931



Internal ID9986615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70242275..70242533hg38UCSC Ensembl
Outerchr4:71107992..71108250hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727786
Supporting Variants
SamplesSSM002
Known Genes
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)essv6851931
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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