A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442853



Internal ID14943120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138126545..138126545hg38UCSC Ensembl
Innerchr3:138126544..138126546hg38UCSC Ensembl
Outerchr3:138126435..138126665hg38UCSC Ensembl
chr3:137845387..137845387hg19UCSC Ensembl
Innerchr3:137845386..137845388hg19UCSC Ensembl
Outerchr3:137845277..137845507hg19UCSC Ensembl
chr3:139328077..139328077hg18UCSC Ensembl
Innerchr3:139328078..139328076hg18UCSC Ensembl
Outerchr3:139327967..139328197hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809162
SamplesNA12878
Known GenesA4GNT
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442853
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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