A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734883



Internal ID9969213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29169425..29170012hg38UCSC Ensembl
Outerchr10:29458354..29458941hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856680, essv6758003, essv6908528, essv6965240, essv6688026, essv6672625
SamplesSSM059, SSM027, SSM087, SSM035, SSM031, SSM014
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)esv2734883
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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