A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729686



Internal ID10313322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6519609..6519998hg38UCSC Ensembl
Outerchr5:6519722..6520111hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719156, essv6781949, essv6708172, essv6869490, essv6770534
SamplesSSM065, SSM041, SSM090, SSM044, SSM068
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)esv2729686
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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