A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999386



Internal ID6735311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45133975..45134322hg38UCSC Ensembl
chr21:46553890..46554237hg19UCSC Ensembl
chr21:45378318..45378665hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572678
SamplesHuRef
Known GenesADARB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999386
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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