A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767388



Internal ID9828502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132275091..132275534hg38UCSC Ensembl
Outerchr5:131610784..131611227hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730785, esv2730786
Supporting Variants
SamplesSSM064
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)essv6767388
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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