A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16240450



Internal ID465797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10521694..10566592hg38UCSC Ensembl
chr21:10945865..10990763hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3844899
hg1944899
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646363
Supporting Variants
SamplesHG00149
Known GenesTPTE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16240450
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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