A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739316



Internal ID10322952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135981803..135982073hg38UCSC Ensembl
Outerchr9:138873649..138873919hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677430, essv6861901, essv6850552, essv6866638, essv6672512, essv6935796
SamplesSSM088, SSM089, SSM032, SSM003, SSM031, SSM086
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)esv2739316
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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