A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743444



Internal ID10324414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:129249609..129249837hg38UCSC Ensembl
Outerchr10:131047873..131048101hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815247, essv6803320
SamplesSSM073, SSM077
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)esv2743444
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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