A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5746044



Internal ID8723447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38539669..38545155hg38UCSC Ensembl
chr21:39911593..39917079hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385487
hg195487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658330
Supporting Variants
SamplesNA12003
Known GenesERG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5746044
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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