A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738735



Internal ID10322371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89471422..89472154hg38UCSC Ensembl
Outerchr9:92086337..92087069hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965031, essv6897318, essv6672416, essv6856483, essv6908415, essv6752223, essv6768160, essv6873362, essv6760641, essv6866571, essv6919685, essv6935610
SamplesSSM027, SSM064, SSM087, SSM057, SSM021, SSM061, SSM089, SSM017, SSM031, SSM014, SSM091, SSM099
Known GenesSEMA4D
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)esv2738735
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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