A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647974



Internal ID7034713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47177986..47179619hg38UCSC Ensembl
Innerchr22:47177986..47179619hg38UCSC Ensembl
Outerchr22:47177819..47179722hg38UCSC Ensembl
chr22:47573739..47575372hg19UCSC Ensembl
Innerchr22:47573739..47575372hg19UCSC Ensembl
Outerchr22:47573572..47575475hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381634
hg191634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16445851
SamplesNA19068
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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