A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428957



Internal ID14929227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16225089..16225416hg38UCSC Ensembl
Innerchr2:16225089..16225416hg38UCSC Ensembl
Outerchr2:16224624..16225777hg38UCSC Ensembl
chr2:16406357..16406684hg19UCSC Ensembl
Innerchr2:16406357..16406684hg19UCSC Ensembl
Outerchr2:16405892..16407045hg19UCSC Ensembl
chr2:16269838..16270165hg18UCSC Ensembl
Innerchr2:16269838..16270165hg18UCSC Ensembl
Outerchr2:16269373..16270526hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652185
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428957
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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