A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670865



Internal ID13731037
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 StatusS
Merged Variantsesv3345579
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670865
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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