A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692254



Internal ID13710937
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 Flag1
Merged StatusS
Merged Variantsesv3429744
Supporting Variants
SamplesNA12891
Known GenesTTC34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692254
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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