A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733264



Internal ID10316900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167975819..167976839hg38UCSC Ensembl
Outerchr6:168376499..168377519hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6770955, essv6915188, essv6680526, essv6963964, essv6767652, essv6855438, essv6687379, essv6715679, essv6930598, essv6837574, essv6903854, essv6969521, essv6926937, essv6962562, essv6762187, essv6790657, essv6757507, essv6814458, essv6760164, essv6690601, essv6890335, essv6930599, essv6889199, essv6671350, essv6939171, essv6737084, essv6711975, essv6754678, essv6826553, essv6818413, essv6748868, essv6727257, essv6701248, essv6856287, essv6918980, essv6731014, essv6676718, essv6964928, essv6786535, essv6934881
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM046, SSM011, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM050, SSM042, SSM058, SSM028, SSM021, SSM047, SSM069, SSM061, SSM017, SSM019, SSM035, SSM032, SSM031, SSM001, SSM033, SSM020, SSM078, SSM016, SSM080, SSM077, SSM022, SSM070, SSM004, SSM043, SSM056, SSM012
Known GenesHGC6.3
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)esv2733264
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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