A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365700



Internal ID15212677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191281668..191281676hg38UCSC Ensembl
Innerchr3:191281660..191281684hg38UCSC Ensembl
Outerchr3:191281650..191281692hg38UCSC Ensembl
chr3:190999457..190999465hg19UCSC Ensembl
Innerchr3:190999449..190999473hg19UCSC Ensembl
Outerchr3:190999439..190999481hg19UCSC Ensembl
chr3:192482151..192482159hg18UCSC Ensembl
Innerchr3:192482167..192482143hg18UCSC Ensembl
Outerchr3:192482133..192482175hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675123, essv8675125, essv8675122, essv8675124, essv8675126
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesUTS2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365700
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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