A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813907



Internal ID9869313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69245886..69349963hg38UCSC Ensembl
Outerchr4:70111604..70215681hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38104078
hg19104078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727780, esv2727778
Supporting Variants
SamplesSSM077
Known GenesUGT2B28
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)essv6813907
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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