A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304821



Internal ID15151769
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 StatusM
Merged Variants
Supporting Variantsessv7754314, essv7742765, essv7762912, essv7751969, essv7750788, essv7756964, essv7760442, essv7752607, essv7745815
SamplesNA18964, NA11831, NA18948, NA12249, NA18945, NA12716, NA18564, NA07037, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304821
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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