A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417654



Internal ID15264612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93875961..93876215hg38UCSC Ensembl
Innerchr1:93875960..93876216hg38UCSC Ensembl
Outerchr1:93875851..93876335hg38UCSC Ensembl
chr1:94341517..94341771hg19UCSC Ensembl
Innerchr1:94341516..94341772hg19UCSC Ensembl
Outerchr1:94341407..94341891hg19UCSC Ensembl
chr1:94114105..94114359hg18UCSC Ensembl
Innerchr1:94114360..94114104hg18UCSC Ensembl
Outerchr1:94113995..94114479hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38255
hg19255
hg18255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e59
Supporting Variantsessv8808984
SamplesNA12878
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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