A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705947



Internal ID10118833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68512282..68512652hg38UCSC Ensembl
Outerchr10:70272039..70272409hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738029, esv2738040
Supporting Variants
SamplesSSM040
Known GenesSLC25A16
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)essv6705947
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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