A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16314917



Internal ID5584795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34923832..34928386hg38UCSC Ensembl
Innerchr21:34923839..34928380hg38UCSC Ensembl
Outerchr21:34923826..34928393hg38UCSC Ensembl
chr21:36296129..36300683hg19UCSC Ensembl
Innerchr21:36296136..36300677hg19UCSC Ensembl
Outerchr21:36296123..36300690hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646928
Supporting Variants
SamplesNA19025
Known GenesRUNX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16314917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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