A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344814



Internal ID15191798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16047668..16047668hg38UCSC Ensembl
Innerchr2:16047667..16047669hg38UCSC Ensembl
Outerchr2:16047608..16047718hg38UCSC Ensembl
chr2:16187790..16187790hg19UCSC Ensembl
Innerchr2:16187789..16187791hg19UCSC Ensembl
Outerchr2:16187730..16187840hg19UCSC Ensembl
chr2:16105241..16105241hg18UCSC Ensembl
Innerchr2:16105242..16105240hg18UCSC Ensembl
Outerchr2:16105181..16105291hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8828382
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344814
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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