A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394920



Internal ID14895198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212592483..212592502hg38UCSC Ensembl
Innerchr1:212592479..212592506hg38UCSC Ensembl
Outerchr1:212592460..212592525hg38UCSC Ensembl
chr1:212765825..212765844hg19UCSC Ensembl
Innerchr1:212765821..212765848hg19UCSC Ensembl
Outerchr1:212765802..212765867hg19UCSC Ensembl
chr1:210832448..210832467hg18UCSC Ensembl
Innerchr1:210832471..210832444hg18UCSC Ensembl
Outerchr1:210832425..210832490hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598025
SamplesNA12873
Known GenesATF3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394920
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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