A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730822



Internal ID10314458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138771689..138773123hg38UCSC Ensembl
Outerchr5:138107378..138108812hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911160, essv6758976, essv6739833, essv6745818, essv6670895, essv6748605, essv6934534, essv6824710, essv6974496, essv6743009, essv6963451, essv6736844
SamplesSSM008, SSM027, SSM050, SSM021, SSM029, SSM031, SSM015, SSM053, SSM010, SSM055, SSM052, SSM056
Known GenesCTNNA1
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)esv2730822
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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