A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16357055



Internal ID3030048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17514901..17521410hg38UCSC Ensembl
Innerchr22:17515051..17521260hg38UCSC Ensembl
Outerchr22:17514751..17521561hg38UCSC Ensembl
chr22:17993930..18000439hg19UCSC Ensembl
Innerchr22:17994080..18000289hg19UCSC Ensembl
Outerchr22:17993780..18000589hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386510
hg196510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647221
Supporting Variants
SamplesHG02666
Known GenesCECR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16357055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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