A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646930



Internal ID7033672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34925366..34928570hg38UCSC Ensembl
chr21:36297663..36300867hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg383205
hg193205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16314920, essv16314921, essv16314919
SamplesHG02323, HG03048, HG03598
Known GenesRUNX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646930
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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