A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738215



Internal ID10321851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:13571239..13575940hg38UCSC Ensembl
Outerchr9:13571238..13575939hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919633, essv6734857, essv6684646, essv6712546, essv6976178, essv6815003, essv6845558, essv6934708, essv6811853, essv6683998, essv6861763, essv6767488, essv6734532, essv6689932, essv6723990, essv6677302, essv6765463, essv6805996, essv6687880
SamplesSSM008, SSM045, SSM074, SSM042, SSM088, SSM029, SSM017, SSM035, SSM032, SSM003, SSM001, SSM085, SSM007, SSM005, SSM077, SSM076, SSM034, SSM049, SSM063
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)esv2738215
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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