A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754314



Internal ID13389938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44487394..44487395hg38UCSC Ensembl
Innerchr6:44487361..44487428hg38UCSC Ensembl
Outerchr6:44487360..44487429hg38UCSC Ensembl
chr6:44455131..44455132hg19UCSC Ensembl
Innerchr6:44455098..44455165hg19UCSC Ensembl
Outerchr6:44455097..44455166hg19UCSC Ensembl
chr6:44563109..44563110hg18UCSC Ensembl
Innerchr6:44563143..44563076hg18UCSC Ensembl
Outerchr6:44563075..44563144hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381615
hg191615
hg181615
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304821
Supporting Variants
SamplesNA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754314
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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