A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16430041



Internal ID2180801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40751321..40768573hg38UCSC Ensembl
Innerchr22:40751335..40768559hg38UCSC Ensembl
Outerchr22:40751307..40768587hg38UCSC Ensembl
chr22:41147325..41164577hg19UCSC Ensembl
Innerchr22:41147339..41164563hg19UCSC Ensembl
Outerchr22:41147311..41164591hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3817253
hg1917253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647782
Supporting Variants
SamplesHG01970
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16430041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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