A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693830



Internal ID15039191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127771719..127774017hg38UCSC Ensembl
Innerchr3:127772719..127773017hg38UCSC Ensembl
Outerchr3:127770719..127775017hg38UCSC Ensembl
chr3:127490562..127492860hg19UCSC Ensembl
Innerchr3:127491562..127491860hg19UCSC Ensembl
Outerchr3:127489562..127493860hg19UCSC Ensembl
chr3:128973252..128975550hg18UCSC Ensembl
Innerchr3:128974252..128974550hg18UCSC Ensembl
Outerchr3:128972252..128976550hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395978
Supporting Variants
SamplesNA19239
Known GenesMGLL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693830
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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