A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413070



Internal ID14913343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110145777..110145796hg38UCSC Ensembl
Innerchr9:110145773..110145800hg38UCSC Ensembl
Outerchr9:110145754..110145819hg38UCSC Ensembl
chr9:112908057..112908076hg19UCSC Ensembl
Innerchr9:112908053..112908080hg19UCSC Ensembl
Outerchr9:112908034..112908099hg19UCSC Ensembl
chr9:111947878..111947897hg18UCSC Ensembl
Innerchr9:111947901..111947874hg18UCSC Ensembl
Outerchr9:111947855..111947920hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679405
SamplesNA19240
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413070
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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