A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179720



Internal ID4181536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62504574..62530771hg38UCSC Ensembl
Innerchr11:62504724..62530621hg38UCSC Ensembl
Outerchr11:62504424..62530921hg38UCSC Ensembl
chr11:62272046..62298243hg19UCSC Ensembl
Innerchr11:62272196..62298093hg19UCSC Ensembl
Outerchr11:62271896..62298393hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3826198
hg1926198
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626610
Supporting Variants
SamplesHG00190
Known GenesAHNAK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179720
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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