A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743429



Internal ID10297545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128648422..128649125hg38UCSC Ensembl
Outerchr10:130446686..130447389hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897131, essv6688101, essv6672780, essv6831084
SamplesSSM035, SSM031, SSM081, SSM012
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)esv2743429
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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