A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444926



Internal ID15291878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132949250..132949253hg38UCSC Ensembl
Innerchr9:132949239..132949264hg38UCSC Ensembl
Outerchr9:132949236..132949267hg38UCSC Ensembl
chr9:135824637..135824640hg19UCSC Ensembl
Innerchr9:135824626..135824651hg19UCSC Ensembl
Outerchr9:135824623..135824654hg19UCSC Ensembl
chr9:134814458..134814461hg18UCSC Ensembl
Innerchr9:134814472..134814447hg18UCSC Ensembl
Outerchr9:134814444..134814475hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864985
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444926
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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