A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745550



Internal ID10156096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68537535..68646991hg38UCSC Ensembl
Outerchr4:69403253..69512709hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38109457
hg19109457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727770
Supporting Variants
SamplesSSM055
Known GenesUGT2B15, UGT2B17
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)essv6745550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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