A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16396940



Internal ID1046830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27734765..27736242hg38UCSC Ensembl
Innerchr22:27734765..27736242hg38UCSC Ensembl
Outerchr22:27734372..27736682hg38UCSC Ensembl
chr22:28130753..28132230hg19UCSC Ensembl
Innerchr22:28130753..28132230hg19UCSC Ensembl
Outerchr22:28130360..28132670hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647496
Supporting Variants
SamplesHG00671
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16396940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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