A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734272



Internal ID10317908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37958895..37959215hg38UCSC Ensembl
Outerchr7:37998497..37998817hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6893736, essv6865861, essv6837669, essv6684208, essv6952158, essv6690695, essv6869953, essv6856898, essv6890396, essv6712072, essv6805635, essv6855590, essv6975222, essv6899879, essv6907809, essv6694448, essv6881595, essv6802741, essv6849492, essv6790759, essv6818504, essv6834003, essv6778442, essv6708638, essv6701347, essv6808606, essv6687445, essv6957432, essv6861145, essv6811490, essv6671479, essv6884410, essv6826644, essv6814547, essv6822656, essv6799112, essv6930702, essv6878779, essv6676805, essv6727350, essv6719656, essv6705248, essv6943705, essv6723481, essv6887189, essv6964126
SamplesSSM100, SSM036, SSM083, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM040, SSM072, SSM082, SSM020, SSM078, SSM080, SSM037, SSM077, SSM076, SSM070, SSM095, SSM025, SSM034, SSM098
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)esv2734272
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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