A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328909



Internal ID15175896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127777011..127777051hg38UCSC Ensembl
Innerchr3:127777029..127777030hg38UCSC Ensembl
Outerchr3:127776993..127777069hg38UCSC Ensembl
chr3:127495854..127495894hg19UCSC Ensembl
Innerchr3:127495872..127495873hg19UCSC Ensembl
Outerchr3:127495836..127495912hg19UCSC Ensembl
chr3:128978544..128978584hg18UCSC Ensembl
Innerchr3:128978562..128978563hg18UCSC Ensembl
Outerchr3:128978526..128978602hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915450, essv8915445, essv8915449
SamplesNA19190, NA19138, NA18523
Known GenesMGLL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328909
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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