A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729456



Internal ID3279952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1263793..1264471hg38UCSC Ensembl
Outerchr5:1263908..1264586hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934387
SamplesSSM021
Known GenesTERT
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)esv2729456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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