A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971273



Internal ID10074022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68757225..68757560hg38UCSC Ensembl
Outerchr15:69049564..69049899hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749820
Supporting Variants
SamplesSSM028
Known Genes
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)essv6971273
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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