A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16314918



Internal ID5584780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34925366..34928570hg38UCSC Ensembl
chr21:36297663..36300867hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg383205
hg193205
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646929
Supporting Variants
SamplesNA19025
Known GenesRUNX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16314918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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