A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747151



Internal ID10154428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68133691..68136575hg38UCSC Ensembl
Outerchr15:68426029..68428913hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382885
hg192885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749814
Supporting Variants
SamplesSSM055
Known GenesPIAS1
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)essv6747151
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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