A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16394366



Internal ID2910493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24799237..24801494hg38UCSC Ensembl
Innerchr22:24799237..24801494hg38UCSC Ensembl
Outerchr22:24799014..24801692hg38UCSC Ensembl
chr22:25195204..25197461hg19UCSC Ensembl
Innerchr22:25195204..25197461hg19UCSC Ensembl
Outerchr22:25194981..25197659hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382258
hg192258
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647442
Supporting Variants
SamplesHG02577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16394366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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