A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733113



Internal ID9967435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163322799..163323203hg38UCSC Ensembl
Outerchr6:163743831..163744235hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1032e201
Supporting Variantsessv6822569, essv6969508, essv6676704, essv6934865, essv6926928, essv6719572, essv6939157, essv6730999, essv6727247, essv6705158, essv6715660, essv6782345, essv6841383, essv6774699, essv6748857, essv6845072, essv6915180, essv6698021, essv6680514, essv6918970, essv6911473, essv6899805, essv6889088
SamplesSSM100, SSM046, SSM079, SSM038, SSM028, SSM084, SSM021, SSM047, SSM017, SSM019, SSM032, SSM044, SSM033, SSM066, SSM085, SSM068, SSM040, SSM015, SSM016, SSM022, SSM043, SSM056, SSM012
Known GenesPACRG-AS1
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)esv2733113
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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