A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721106



Internal ID10304742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197924865..197925170hg38UCSC Ensembl
Outerchr1:197893995..197894300hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e201
Supporting Variantsessv6699760, essv6880541, essv6682953, essv6825133, essv6886095, essv6829141, essv6729764, essv6801742, essv6789304, essv6836324, essv6710727, essv6921886, essv6669193, essv6675349, essv6895967, essv6853458, essv6961783, essv6689390, essv6941959, essv6832722, essv6892459, essv6910199, essv6813295, essv6902675, essv6847256, essv6898735, essv6821326, essv6781028, essv6889145, essv6972616, essv6697096, essv6954980, essv6785141, essv6859367, essv6845165, essv6718293, essv6877774, essv6864143, essv6707388, essv6816770, essv6703984, essv6777072
SamplesSSM100, SSM036, SSM083, SSM027, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM067, SSM044, SSM086, SSM068, SSM081, SSM040, SSM082, SSM015, SSM078, SSM080, SSM077, SSM070, SSM034, SSM099, SSM098
Known GenesLHX9
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)esv2721106
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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