A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5633602



Internal ID9833759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46189828..46190962hg38UCSC Ensembl
chr21:47609742..47610876hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668812
Supporting Variants
SamplesNA20341
Known GenesLSS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5633602
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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