A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734290



Internal ID10317926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38473395..38473753hg38UCSC Ensembl
Outerchr7:38512995..38513353hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855596, essv6830395, essv6948060, essv6899881, essv6719658, essv6856943, essv6802747, essv6684212, essv6939280, essv6818508, essv6794912, essv6849499, essv6887192, essv6930704, essv6837673, essv6943711, essv6907812, essv6890400, essv6811494, essv6861151, essv6869955, essv6808611, essv6786663, essv6778447, essv6834006, essv6975225, essv6969642, essv6790762, essv6676807, essv6731115, essv6782462, essv6671486, essv6767735, essv6930751, essv6865866, essv6690699, essv6896921, essv6893740, essv6878782, essv6964132, essv6687450, essv6694452, essv6884414
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM064, SSM087, SSM097, SSM073, SSM093, SSM088, SSM023, SSM028, SSM090, SSM047, SSM069, SSM029, SSM096, SSM089, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM082, SSM020, SSM078, SSM037, SSM076, SSM022, SSM070, SSM095, SSM034, SSM099, SSM098
Known GenesAMPH
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)esv2734290
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer