A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14184856



Internal ID4186672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63549774..63585192hg38UCSC Ensembl
Innerchr11:63549924..63585042hg38UCSC Ensembl
Outerchr11:63549624..63585342hg38UCSC Ensembl
chr11:63317246..63352664hg19UCSC Ensembl
Innerchr11:63317396..63352514hg19UCSC Ensembl
Outerchr11:63317096..63352814hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3835419
hg1935419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626646
Supporting Variants
SamplesHG00142
Known GenesHRASLS2, MIR3680-1, MIR3680-2, PLA2G16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14184856
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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