A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364916



Internal ID14865176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25399673..25399838hg38UCSC Ensembl
Innerchr2:25399673..25399838hg38UCSC Ensembl
Outerchr2:25397074..25400896hg38UCSC Ensembl
chr2:25622542..25622707hg19UCSC Ensembl
Innerchr2:25622542..25622707hg19UCSC Ensembl
Outerchr2:25619943..25623765hg19UCSC Ensembl
chr2:25476046..25476211hg18UCSC Ensembl
Innerchr2:25476046..25476211hg18UCSC Ensembl
Outerchr2:25473447..25477269hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38166
hg19166
hg18166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2081e59
Supporting Variantsessv8652205
SamplesNA19240
Known GenesDTNB
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364916
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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