A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776073



Internal ID9835262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48530164..48530382hg38UCSC Ensembl
Outerchr15:48822361..48822579hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749670
Supporting Variants
SamplesSSM066
Known GenesFBN1
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)essv6776073
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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