A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739035



Internal ID10322671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124341375..124341535hg38UCSC Ensembl
Outerchr9:127103654..127103814hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705833, essv6850519
SamplesSSM086, SSM040
Known GenesNEK6
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)esv2739035
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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