A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860210



Internal ID9913314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69101811..69394428hg38UCSC Ensembl
Outerchr4:69967529..70260146hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38292618
hg19292618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727778
Supporting Variants
SamplesSSM088
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)essv6860210
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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