A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767107



Internal ID10175439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33034629..33034863hg38UCSC Ensembl
Outerchr4:33036251..33036485hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727375
Supporting Variants
SamplesSSM064
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)essv6767107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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