A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726353



Internal ID10309989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:188015083..188016978hg38UCSC Ensembl
Outerchr3:187732871..187734766hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381896
hg191896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841819, essv6764603, essv6781572, essv6821510, essv6813753, essv6730252, essv6825711, essv6807916, essv6697472, essv6714899, essv6883745, essv6711239, essv6848115, essv6770192, essv6802106, essv6704423, essv6934003, essv6667220, essv6854264, essv6804949
SamplesSSM075, SSM065, SSM087, SSM038, SSM073, SSM074, SSM042, SSM002, SSM021, SSM047, SSM086, SSM068, SSM040, SSM080, SSM077, SSM010, SSM095, SSM043, SSM030, SSM063
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)esv2726353
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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