A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396390



Internal ID14896668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69517517..69517536hg38UCSC Ensembl
Innerchr2:69517513..69517540hg38UCSC Ensembl
Outerchr2:69517494..69517559hg38UCSC Ensembl
chr2:69744649..69744668hg19UCSC Ensembl
Innerchr2:69744645..69744672hg19UCSC Ensembl
Outerchr2:69744626..69744691hg19UCSC Ensembl
chr2:69598153..69598172hg18UCSC Ensembl
Innerchr2:69598176..69598149hg18UCSC Ensembl
Outerchr2:69598130..69598195hg18UCSC Ensembl
Cytoband2p13.3
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 Variantsessv9602424, essv9602413
SamplesNA07347, NA11840
Known GenesAAK1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396390
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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