A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730412



Internal ID10314048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:85518354..85519154hg38UCSC Ensembl
Outerchr5:84814172..84814972hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759851, essv6736803, essv6886308, essv6814139, essv6878449, essv6745775, essv6974408
SamplesSSM093, SSM050, SSM061, SSM029, SSM077, SSM055, SSM012
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)esv2730412
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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