A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725782



Internal ID10309418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114135166..114135495hg38UCSC Ensembl
Outerchr3:113854013..113854342hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886419, essv6880868, essv6906752, essv6962525, essv6711182, essv6973515, essv6883695, essv6700296, essv6864724, essv6899090, essv6817314, essv6859933, essv6848011, essv6810761, essv6914481, essv6669953, essv6730189, essv6854169, essv6849220, essv6825648, essv6942510, essv6686644, essv6813691, essv6675801, essv6798096, essv6955808, essv6821755, essv6889537, essv6718715, essv6892853, essv6789779
SamplesSSM100, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM042, SSM088, SSM023, SSM047, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM072, SSM078, SSM016, SSM080, SSM077, SSM076, SSM070, SSM095, SSM098
Known GenesDRD3
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)esv2725782
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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