A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864171



Internal ID13316652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114230269..114230269hg38UCSC Ensembl
Innerchr3:114230267..114230271hg38UCSC Ensembl
Outerchr3:114230267..114230271hg38UCSC Ensembl
chr3:113949116..113949116hg19UCSC Ensembl
Innerchr3:113949114..113949118hg19UCSC Ensembl
Outerchr3:113949114..113949118hg19UCSC Ensembl
chr3:115431806..115431806hg18UCSC Ensembl
Innerchr3:115431808..115431804hg18UCSC Ensembl
Outerchr3:115431804..115431808hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387358
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864171
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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