A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427797



Internal ID15274753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14274196..14275582hg38UCSC Ensembl
Innerchr2:14274196..14275582hg38UCSC Ensembl
Outerchr2:14273890..14275692hg38UCSC Ensembl
chr2:14414320..14415706hg19UCSC Ensembl
Innerchr2:14414320..14415706hg19UCSC Ensembl
Outerchr2:14414014..14415816hg19UCSC Ensembl
chr2:14331771..14333157hg18UCSC Ensembl
Innerchr2:14331771..14333157hg18UCSC Ensembl
Outerchr2:14331465..14333267hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381387
hg191387
hg181387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652184
SamplesNA19240
Known GenesLINC00276
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427797
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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