A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743442



Internal ID10324412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:129249397..129249886hg38UCSC Ensembl
Outerchr10:131047661..131048150hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815247, essv6724260, essv6716545, essv6803320, essv6965389
SamplesSSM027, SSM045, SSM073, SSM077, SSM043
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)esv2743442
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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