A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775469



Internal ID10181404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:113781249..113781590hg38UCSC Ensembl
Outerchr10:115541008..115541349hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741106
Supporting Variants
SamplesSSM066
Known GenesPLEKHS1
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)essv6775469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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