A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672483



Internal ID9744238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133185344..133185682hg38UCSC Ensembl
Outerchr9:136060731..136061069hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739138, esv2739150
Supporting Variants
SamplesSSM031
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)essv6672483
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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