A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749837



Internal ID10330807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70376332..70376765hg38UCSC Ensembl
Outerchr15:70668671..70669104hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824050, essv6779875, essv6959988, essv6792279
SamplesSSM079, SSM026, SSM067, SSM070
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)esv2749837
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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