A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800651



Internal ID10204311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68757236..68757548hg38UCSC Ensembl
Outerchr15:69049575..69049887hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749820
Supporting Variants
SamplesSSM072
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)essv6800651
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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