A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749965



Internal ID10330935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:84889467..84889941hg38UCSC Ensembl
Outerchr15:85432698..85433172hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702891, essv6665368
SamplesSSM039, SSM029
Known GenesSLC28A1
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)esv2749965
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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