A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730820



Internal ID9965137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138143597..138143780hg38UCSC Ensembl
Outerchr5:137479286..137479469hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38184
hg19184
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
SamplesSSM045, SSM041, SSM084, SSM047, SSM019, SSM003, SSM031, SSM086, SSM015, SSM022
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)esv2730820
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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