A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412293



Internal ID15259252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45054990..45055169hg38UCSC Ensembl
Innerchr21:45054990..45055169hg38UCSC Ensembl
Outerchr21:45054831..45055578hg38UCSC Ensembl
chr21:46474905..46475084hg19UCSC Ensembl
Innerchr21:46474905..46475084hg19UCSC Ensembl
Outerchr21:46474746..46475493hg19UCSC Ensembl
chr21:45299333..45299512hg18UCSC Ensembl
Innerchr21:45299333..45299512hg18UCSC Ensembl
Outerchr21:45299174..45299921hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38180
hg19180
hg18180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652144
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412293
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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