A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16396918



Internal ID6193327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27258850..27262119hg38UCSC Ensembl
Innerchr22:27258850..27262119hg38UCSC Ensembl
Outerchr22:27258703..27262288hg38UCSC Ensembl
chr22:27654811..27658080hg19UCSC Ensembl
Innerchr22:27654811..27658080hg19UCSC Ensembl
Outerchr22:27654664..27658249hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383270
hg193270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647493
Supporting Variants
SamplesNA19723
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16396918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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