A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864181



Internal ID14395970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128965813..128965830hg38UCSC Ensembl
Innerchr3:128965784..128965859hg38UCSC Ensembl
Outerchr3:128965767..128965876hg38UCSC Ensembl
chr3:128684656..128684673hg19UCSC Ensembl
Innerchr3:128684627..128684702hg19UCSC Ensembl
Outerchr3:128684610..128684719hg19UCSC Ensembl
chr3:130167346..130167363hg18UCSC Ensembl
Innerchr3:130167392..130167317hg18UCSC Ensembl
Outerchr3:130167300..130167409hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433075
Supporting Variants
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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