A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738697



Internal ID10322333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86758139..86758758hg38UCSC Ensembl
Outerchr9:89373054..89373673hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912131, essv6919678, essv6724053, essv6850463, essv6740671, essv6672408, essv6958447, essv6791375
SamplesSSM045, SSM026, SSM017, SSM031, SSM086, SSM015, SSM070, SSM052
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)esv2738697
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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