A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794501



Internal ID9852384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140713382..140728266hg38UCSC Ensembl
Outerchr5:140092967..140107851hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814885
hg1914885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730832
Supporting Variants
SamplesSSM071
Known GenesVTRNA1-2, VTRNA1-3
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)essv6794501
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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