A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738699



Internal ID9973040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86995354..86995573hg38UCSC Ensembl
Outerchr9:89610269..89610488hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1261e201
Supporting Variantsessv6724055, essv6687920, essv6912132, essv6672409, essv6919679, essv6900303, essv6976266, essv6831609, essv6760639, essv6935196, essv6803169, essv6866563, essv6778997, essv6681161, essv6734998, essv6944392, essv6873360, essv6923838, essv6746495, essv6767821, essv6862009, essv6799741, essv6698450, essv6827240, essv6882000, essv6845600, essv6743691, essv6870407, essv6908410, essv6856479
SamplesSSM100, SSM008, SSM045, SSM011, SSM087, SSM038, SSM073, SSM023, SSM090, SSM018, SSM061, SSM029, SSM089, SSM017, SSM035, SSM094, SSM003, SSM031, SSM067, SSM014, SSM033, SSM085, SSM072, SSM007, SSM015, SSM053, SSM080, SSM010, SSM091, SSM055
Known GenesLOC100506834
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)esv2738699
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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