A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16347122



Internal ID6348938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46592879..46650385hg38UCSC Ensembl
chr21:48012792..48070297hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857507
hg1957506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647172
Supporting Variants
SamplesNA18618
Known GenesPRMT2, S100B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16347122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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