A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743631



Internal ID10324601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132190948..132191785hg38UCSC Ensembl
Outerchr10:134004452..134005289hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e201
Supporting Variantsessv6958893, essv6771852, essv6915932, essv6944678, essv6779241, essv6842233
SamplesSSM065, SSM023, SSM084, SSM026, SSM067, SSM016
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)esv2743631
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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