A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646526



Internal ID7033270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:19537881..19693712hg38UCSC Ensembl
chr21:20910196..21066026hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38155832
hg19155831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16277448, essv16277449
SamplesNA20753, HG02304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646526
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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