A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743633



Internal ID9977917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132203568..132203717hg38UCSC Ensembl
Outerchr10:134017072..134017221hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856859
SamplesSSM087
Known GenesDPYSL4
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)esv2743633
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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