A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730819



Internal ID10314455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138143242..138143913hg38UCSC Ensembl
Outerchr5:137478931..137479602hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938839, essv6848872, essv6911159, essv6708281, essv6841085, essv6926644, essv6723082, essv6670894, essv6926751, essv6730729, essv6667458
SamplesSSM045, SSM041, SSM084, SSM047, SSM019, SSM003, SSM031, SSM086, SSM015, SSM022, SSM030
Known GenesBRD8
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)esv2730819
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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