A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383861



Internal ID15230831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97988318..97989416hg38UCSC Ensembl
Innerchr3:97988416..97989318hg38UCSC Ensembl
Outerchr3:97987318..97990416hg38UCSC Ensembl
chr3:97707162..97708260hg19UCSC Ensembl
Innerchr3:97707260..97708162hg19UCSC Ensembl
Outerchr3:97706162..97709260hg19UCSC Ensembl
chr3:99189852..99190950hg18UCSC Ensembl
Innerchr3:99190852..99189950hg18UCSC Ensembl
Outerchr3:99188852..99191950hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694189
SamplesNA19239
Known GenesGABRR3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383861
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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