A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942518



Internal ID9642347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77716189..77720214hg38UCSC Ensembl
Outerchr15:78008531..78012556hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg384026
hg194026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749898, esv2749909
Supporting Variants
SamplesSSM003
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)essv6942518
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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