A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733613



Internal ID10317249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:475674..475988hg38UCSC Ensembl
Outerchr7:515311..515625hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1059e201
Supporting Variantsessv6808565, essv6676748, essv6822603, essv6782391, essv6962773, essv6715708, essv6855481, essv6833939, essv6952077, essv6799046, essv6856421, essv6767673, essv6684139, essv6964021, essv6957317, essv6701287, essv6943631, essv6861062, essv6865790, essv6794838, essv6811446, essv6719602, essv6875872, essv6969559, essv6802695, essv6869908, essv6687399, essv6887147, essv6698039, essv6734470, essv6899828, essv6826583, essv6680560, essv6926962, essv6911518, essv6878735, essv6760178, essv6727289, essv6930631, essv6762409, essv6723411, essv6881554, essv6818432, essv6849393, essv6919022, essv6975101, essv6837607, essv6708588, essv6930185, essv6671389, essv6694359, essv6690639, essv6790693, essv6872907, essv6680088, essv6890350, essv6786583, essv6907753, essv6830336, essv6855482, essv6896881
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM088, SSM041, SSM023, SSM028, SSM092, SSM090, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM076, SSM091, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM049
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)esv2733613
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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