A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435510



Internal ID15282464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2651953..2699351hg38UCSC Ensembl
Innerchr1:2652953..2698351hg38UCSC Ensembl
Outerchr1:2650953..2700351hg38UCSC Ensembl
chr1:2583392..2630790hg19UCSC Ensembl
Innerchr1:2584392..2629790hg19UCSC Ensembl
Outerchr1:2582392..2631790hg19UCSC Ensembl
chr1:2573252..2620650hg18UCSC Ensembl
Innerchr1:2574252..2619650hg18UCSC Ensembl
Outerchr1:2572252..2621650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3847399
hg1947399
hg1847399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e59
Supporting Variantsessv8692253
SamplesNA19240
Known GenesTTC34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435510
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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