A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16314921



Internal ID3945346
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646930
Supporting Variants
SamplesHG03598
Known GenesRUNX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16314921
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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