A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740807



Internal ID9975150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110226949..110227271hg38UCSC Ensembl
Outerchr10:111986707..111987029hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856789
SamplesSSM087
Known GenesMXI1
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)esv2740807
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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