A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16371015



Internal ID2589077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21831701..21837919hg38UCSC Ensembl
Innerchr22:21831717..21837903hg38UCSC Ensembl
Outerchr22:21831685..21837935hg38UCSC Ensembl
chr22:22185990..22192208hg19UCSC Ensembl
Innerchr22:22186006..22192192hg19UCSC Ensembl
Outerchr22:22185974..22192224hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386219
hg196219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647321
Supporting Variants
SamplesHG02292
Known GenesMAPK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16371015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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