A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447302



Internal ID15294252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144946127..144946146hg38UCSC Ensembl
Innerchr6:144946123..144946150hg38UCSC Ensembl
Outerchr6:144946104..144946169hg38UCSC Ensembl
chr6:145267263..145267282hg19UCSC Ensembl
Innerchr6:145267259..145267286hg19UCSC Ensembl
Outerchr6:145267240..145267305hg19UCSC Ensembl
chr6:145308956..145308975hg18UCSC Ensembl
Innerchr6:145308979..145308952hg18UCSC Ensembl
Outerchr6:145308933..145308998hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9631636
SamplesNA12287
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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