A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345579



Internal ID15192563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227414439..227414586hg38UCSC Ensembl
Innerchr1:227414453..227414572hg38UCSC Ensembl
Outerchr1:227414425..227414600hg38UCSC Ensembl
chr1:227602140..227602287hg19UCSC Ensembl
Innerchr1:227602154..227602273hg19UCSC Ensembl
Outerchr1:227602126..227602301hg19UCSC Ensembl
chr1:225668763..225668910hg18UCSC Ensembl
Innerchr1:225668777..225668896hg18UCSC Ensembl
Outerchr1:225668749..225668924hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670866, essv8670865
SamplesNA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345579
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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