A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426676



Internal ID15273633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228824170..228824182hg38UCSC Ensembl
Innerchr1:228824161..228824188hg38UCSC Ensembl
Outerchr1:228824149..228824203hg38UCSC Ensembl
chr1:228959917..228959929hg19UCSC Ensembl
Innerchr1:228959908..228959935hg19UCSC Ensembl
Outerchr1:228959896..228959950hg19UCSC Ensembl
chr1:227026540..227026552hg18UCSC Ensembl
Innerchr1:227026558..227026531hg18UCSC Ensembl
Outerchr1:227026519..227026573hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673939, essv8673938, essv8673940
SamplesNA12891, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426676
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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