A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848869



Internal ID10247463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137516999..137517065hg38UCSC Ensembl
Outerchr5:136852688..136852754hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730812, esv2730813
Supporting Variants
SamplesSSM086
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)essv6848869
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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