A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368253



Internal ID15215229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42441819..42441819hg38UCSC Ensembl
Innerchr2:42441818..42441820hg38UCSC Ensembl
Outerchr2:42441779..42441839hg38UCSC Ensembl
chr2:42668959..42668959hg19UCSC Ensembl
Innerchr2:42668958..42668960hg19UCSC Ensembl
Outerchr2:42668919..42668979hg19UCSC Ensembl
chr2:42522463..42522463hg18UCSC Ensembl
Innerchr2:42522464..42522462hg18UCSC Ensembl
Outerchr2:42522423..42522483hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8643748
Samples
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368253
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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