A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931707



Internal ID9641374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129904950..129905996hg38UCSC Ensembl
Outerchr7:129544790..129545836hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735150
Supporting Variants
SamplesSSM003
Known GenesUBE2H
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)essv6931707
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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