A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740768



Internal ID9975111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69101468..69394459hg38UCSC Ensembl
Outerchr4:69967186..70260177hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38292992
hg19292992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844e201
Supporting Variantsessv6670309
SamplesSSM031
Known GenesUGT2B11, 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)esv2740768
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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