A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646433



Internal ID6686491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14569026..14657077hg38UCSC Ensembl
chr21:15941347..16029398hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3888052
hg1988052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16266313
SamplesHG01889
Known GenesLOC388813, SAMSN1, SAMSN1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646433
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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