A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968774



Internal ID10076270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23098907..23099729hg38UCSC Ensembl
Outerchr4:23100530..23101352hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727292
Supporting Variants
SamplesSSM028
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)essv6968774
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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