A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305336



Internal ID14805598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64544648..64544649hg38UCSC Ensembl
Innerchr2:64544620..64544677hg38UCSC Ensembl
Outerchr2:64544619..64544678hg38UCSC Ensembl
chr2:64771782..64771783hg19UCSC Ensembl
Innerchr2:64771754..64771811hg19UCSC Ensembl
Outerchr2:64771753..64771812hg19UCSC Ensembl
chr2:64625286..64625287hg18UCSC Ensembl
Innerchr2:64625315..64625258hg18UCSC Ensembl
Outerchr2:64625257..64625316hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759198, essv7746737, essv7762293, essv7745601, essv7750821, essv7759915, essv7746559, essv7740981
SamplesNA18948, NA18517, NA18489, NA18508, NA19172, NA18858, NA19138, NA18555
Known GenesAFTPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305336
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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