A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848850



Internal ID10247446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123089149..123089211hg38UCSC Ensembl
Outerchr5:122424844..122424906hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730710, esv2730713, esv2730712
Supporting Variants
SamplesSSM086
Known GenesPRDM6
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)essv6848850
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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