A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8932881



Internal ID14915612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126049231..126049255hg38UCSC Ensembl
Innerchr6:126049230..126049254hg38UCSC Ensembl
Outerchr6:126049206..126049278hg38UCSC Ensembl
chr6:126370377..126370401hg19UCSC Ensembl
Innerchr6:126370376..126370400hg19UCSC Ensembl
Outerchr6:126370352..126370424hg19UCSC Ensembl
chr6:126412070..126412094hg18UCSC Ensembl
Innerchr6:126412093..126412069hg18UCSC Ensembl
Outerchr6:126412045..126412117hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402229
Supporting Variants
SamplesNA19147
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8932881
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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