A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700184



Internal ID9767897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10950098..10950600hg38UCSC Ensembl
Outerchr3:10991784..10992286hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724904, esv2724892, esv2724895
Supporting Variants
SamplesSSM039
Known Genes
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)essv6700184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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