A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390746



Internal ID15237713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212717693..212717715hg38UCSC Ensembl
Innerchr1:212717697..212717709hg38UCSC Ensembl
Outerchr1:212717675..212717731hg38UCSC Ensembl
chr1:212891035..212891057hg19UCSC Ensembl
Innerchr1:212891039..212891051hg19UCSC Ensembl
Outerchr1:212891017..212891073hg19UCSC Ensembl
chr1:210957658..210957680hg18UCSC Ensembl
Innerchr1:210957674..210957662hg18UCSC Ensembl
Outerchr1:210957640..210957696hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8902866, essv8902865
SamplesNA19257, NA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390746
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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