A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8906813



Internal ID13523177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64544644..64544658hg38UCSC Ensembl
Innerchr2:64544644..64544656hg38UCSC Ensembl
Outerchr2:64544630..64544672hg38UCSC Ensembl
chr2:64771778..64771792hg19UCSC Ensembl
Innerchr2:64771778..64771790hg19UCSC Ensembl
Outerchr2:64771764..64771806hg19UCSC Ensembl
chr2:64625282..64625296hg18UCSC Ensembl
Innerchr2:64625294..64625282hg18UCSC Ensembl
Outerchr2:64625268..64625310hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405914
Supporting Variants
SamplesNA18517
Known GenesAFTPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8906813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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