A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729741



Internal ID10313377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10521585..10521939hg38UCSC Ensembl
Outerchr5:10521697..10522051hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840989, essv6715271, essv6918490, essv6670696
SamplesSSM084, SSM017, SSM031, SSM043
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)esv2729741
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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