A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9602424



Internal ID12818582
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 StatusS
Merged Variantsesv3396390
Supporting Variants
SamplesNA11840
Known GenesAAK1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9602424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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