A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647840



Internal ID7034579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42744962..42745932hg38UCSC Ensembl
Innerchr22:42744962..42745932hg38UCSC Ensembl
Outerchr22:42744731..42746154hg38UCSC Ensembl
chr22:43140968..43141938hg19UCSC Ensembl
Innerchr22:43140968..43141938hg19UCSC Ensembl
Outerchr22:43140737..43142160hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16433311
SamplesNA18592
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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