A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869341



Internal ID9919205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68852278..69456263hg38UCSC Ensembl
Outerchr4:69717996..70321981hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38603986
hg19603986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727775
Supporting Variants
SamplesSSM090
Known GenesUGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B7
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)essv6869341
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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