A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416460



Internal ID15263419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31274652..31274652hg38UCSC Ensembl
Innerchr2:31274651..31274653hg38UCSC Ensembl
Outerchr2:31274602..31274702hg38UCSC Ensembl
chr2:31497518..31497518hg19UCSC Ensembl
Innerchr2:31497517..31497519hg19UCSC Ensembl
Outerchr2:31497468..31497568hg19UCSC Ensembl
chr2:31351022..31351022hg18UCSC Ensembl
Innerchr2:31351023..31351021hg18UCSC Ensembl
Outerchr2:31350972..31351072hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381988
hg191988
hg181988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741061
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416460
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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