A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743453



Internal ID10324423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:130202955..130203226hg38UCSC Ensembl
Outerchr10:132001219..132001490hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944659, essv6783320, essv6931583
SamplesSSM023, SSM068, SSM020
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)esv2743453
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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