A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309092



Internal ID14809355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110145786..110145787hg38UCSC Ensembl
Innerchr9:110145764..110145809hg38UCSC Ensembl
Outerchr9:110145763..110145810hg38UCSC Ensembl
chr9:112908066..112908067hg19UCSC Ensembl
Innerchr9:112908044..112908089hg19UCSC Ensembl
Outerchr9:112908043..112908090hg19UCSC Ensembl
chr9:111947887..111947888hg18UCSC Ensembl
Innerchr9:111947910..111947865hg18UCSC Ensembl
Outerchr9:111947864..111947911hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839126
SamplesNA19240
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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