A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398293



Internal ID15245256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130821209..130821209hg38UCSC Ensembl
Innerchr9:130821208..130821210hg38UCSC Ensembl
Outerchr9:130821149..130821259hg38UCSC Ensembl
chr9:133696596..133696596hg19UCSC Ensembl
Innerchr9:133696595..133696597hg19UCSC Ensembl
Outerchr9:133696536..133696646hg19UCSC Ensembl
chr9:132686417..132686417hg18UCSC Ensembl
Innerchr9:132686418..132686416hg18UCSC Ensembl
Outerchr9:132686357..132686467hg18UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8843484
SamplesNA12878
Known GenesABL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398293
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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