A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16364498



Internal ID6366314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112393..19113094hg38UCSC Ensembl
Innerchr22:19112398..19113089hg38UCSC Ensembl
Outerchr22:19112388..19113099hg38UCSC Ensembl
chr22:19099906..19100607hg19UCSC Ensembl
Innerchr22:19099911..19100602hg19UCSC Ensembl
Outerchr22:19099901..19100612hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647259
Supporting Variants
SamplesHG03072
Known GenesDGCR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16364498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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