A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429744



Internal ID15276700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2651953..2699651hg38UCSC Ensembl
Innerchr1:2652953..2698651hg38UCSC Ensembl
Outerchr1:2650953..2700651hg38UCSC Ensembl
chr1:2583392..2631090hg19UCSC Ensembl
Innerchr1:2584392..2630090hg19UCSC Ensembl
Outerchr1:2582392..2632090hg19UCSC Ensembl
chr1:2573252..2620950hg18UCSC Ensembl
Innerchr1:2574252..2619950hg18UCSC Ensembl
Outerchr1:2572252..2621950hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3847699
hg1947699
hg1847699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e59
Supporting Variantsessv8692254
SamplesNA12891
Known GenesTTC34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429744
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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