A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373845



Internal ID15220820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193636369..193636379hg38UCSC Ensembl
Innerchr3:193636361..193636387hg38UCSC Ensembl
Outerchr3:193636351..193636395hg38UCSC Ensembl
chr3:193354158..193354168hg19UCSC Ensembl
Innerchr3:193354150..193354176hg19UCSC Ensembl
Outerchr3:193354140..193354184hg19UCSC Ensembl
chr3:194836852..194836862hg18UCSC Ensembl
Innerchr3:194836870..194836844hg18UCSC Ensembl
Outerchr3:194836834..194836878hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381045
hg191045
hg181045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675128, essv8675132, essv8675129, essv8675130
SamplesNA12891, NA19238, NA12878, NA19240
Known GenesOPA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373845
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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