A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16444863



Internal ID659129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45907172..45915566hg38UCSC Ensembl
Innerchr22:45907193..45915546hg38UCSC Ensembl
Outerchr22:45907152..45915587hg38UCSC Ensembl
chr22:46303052..46311446hg19UCSC Ensembl
Innerchr22:46303073..46311426hg19UCSC Ensembl
Outerchr22:46303032..46311467hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388395
hg198395
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647938
Supporting Variants
SamplesHG00306
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16444863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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