A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405914



Internal ID14906190
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 StatusM
Merged Variants
Supporting Variantsessv8906812, essv8906817, essv8906810, essv8906811, essv8906815, essv8906816, essv8906818, essv8906813
SamplesNA18948, NA18517, NA18489, NA18508, NA19172, NA18858, NA19138, NA18555
Known GenesAFTPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405914
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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