A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440538



Internal ID14940805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110050627..110050649hg38UCSC Ensembl
Innerchr9:110050629..110050647hg38UCSC Ensembl
Outerchr9:110050625..110050651hg38UCSC Ensembl
chr9:112812907..112812929hg19UCSC Ensembl
Innerchr9:112812909..112812927hg19UCSC Ensembl
Outerchr9:112812905..112812931hg19UCSC Ensembl
chr9:111852728..111852750hg18UCSC Ensembl
Innerchr9:111852730..111852748hg18UCSC Ensembl
Outerchr9:111852726..111852752hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864961
SamplesNA12005
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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