A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749833



Internal ID10330803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69832416..69832635hg38UCSC Ensembl
Outerchr15:70124755..70124974hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936603
SamplesSSM021
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)esv2749833
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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