A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8933733



Internal ID14399041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148818184..148818206hg38UCSC Ensembl
Innerchr6:148818185..148818202hg38UCSC Ensembl
Outerchr6:148818163..148818224hg38UCSC Ensembl
chr6:149139320..149139342hg19UCSC Ensembl
Innerchr6:149139321..149139338hg19UCSC Ensembl
Outerchr6:149139299..149139360hg19UCSC Ensembl
chr6:149181013..149181035hg18UCSC Ensembl
Innerchr6:149181031..149181014hg18UCSC Ensembl
Outerchr6:149180992..149181053hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326645
Supporting Variants
SamplesNA18871
Known GenesUST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8933733
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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