A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837040



Internal ID14691644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46620360..46620361hg38UCSC Ensembl
Innerchr3:46620334..46620387hg38UCSC Ensembl
Outerchr3:46620333..46620388hg38UCSC Ensembl
chr3:46661850..46661851hg19UCSC Ensembl
Innerchr3:46661824..46661877hg19UCSC Ensembl
Outerchr3:46661823..46661878hg19UCSC Ensembl
chr3:46636854..46636855hg18UCSC Ensembl
Innerchr3:46636881..46636828hg18UCSC Ensembl
Outerchr3:46636827..46636882hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308892
Supporting Variants
SamplesNA19239
Known GenesLOC100132146
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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