A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12223164



Internal ID2224980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:22274500..22346259hg38UCSC Ensembl
Innerchr6:22274500..22346259hg38UCSC Ensembl
Outerchr6:22274000..22346759hg38UCSC Ensembl
chr6:22274729..22346488hg19UCSC Ensembl
Innerchr6:22274729..22346488hg19UCSC Ensembl
Outerchr6:22274229..22346988hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3871760
hg1971760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608333
Supporting Variants
SamplesNA07051
Known GenesPRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12223164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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