A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739365



Internal ID3289861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136535313..136535543hg38UCSC Ensembl
Outerchr9:139429765..139429995hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779074, essv6965135
SamplesSSM027, SSM067
Known GenesNOTCH1
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)esv2739365
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