A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16266313



Internal ID6268129
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646433
Supporting Variants
SamplesHG01889
Known GenesLOC388813, SAMSN1, SAMSN1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16266313
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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