A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411593



Internal ID15258552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62904472..62904472hg38UCSC Ensembl
Innerchr1:62904471..62904473hg38UCSC Ensembl
Outerchr1:62904422..62904522hg38UCSC Ensembl
chr1:63370143..63370143hg19UCSC Ensembl
Innerchr1:63370142..63370144hg19UCSC Ensembl
Outerchr1:63370093..63370193hg19UCSC Ensembl
chr1:63142731..63142731hg18UCSC Ensembl
Innerchr1:63142732..63142730hg18UCSC Ensembl
Outerchr1:63142681..63142781hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384593
hg194593
hg184593
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740977
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411593
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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