A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353173



Internal ID15200154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103151546..103151584hg38UCSC Ensembl
Innerchr2:103151563..103151564hg38UCSC Ensembl
Outerchr2:103151528..103151602hg38UCSC Ensembl
chr2:103768004..103768042hg19UCSC Ensembl
Innerchr2:103768021..103768022hg19UCSC Ensembl
Outerchr2:103767986..103768060hg19UCSC Ensembl
chr2:103134436..103134474hg18UCSC Ensembl
Innerchr2:103134454..103134453hg18UCSC Ensembl
Outerchr2:103134418..103134492hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674396
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353173
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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