A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732360



Internal ID10315996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82966305..82966671hg38UCSC Ensembl
Outerchr6:83676024..83676390hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708494, essv6811368, essv6947859, essv6837480, essv6860928, essv6671181, essv6705084, essv6890275, essv6830225, essv6818290, essv6969432, essv6963810, essv6841313, essv6957086, essv6872818, essv6822493, essv6855307, essv6878668, essv6907626, essv6701138
SamplesSSM083, SSM027, SSM024, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM041, SSM028, SSM084, SSM026, SSM031, SSM014, SSM081, SSM040, SSM078, SSM076, SSM091
Known GenesUBE3D
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)esv2732360
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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