A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848035



Internal ID10246713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640106..126640377hg38UCSC Ensembl
Outerchr3:126358949..126359220hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725874
Supporting Variants
SamplesSSM086
Known GenesTXNRD3
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)essv6848035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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