A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647136



Internal ID6687191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44802580..44905193hg38UCSC Ensembl
chr21:46222495..46325108hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38102614
hg19102614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16334180
SamplesHG04156
Known GenesITGB2, PTTG1IP, SUMO3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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