A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648070



Internal ID7034807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49763658..49767169hg38UCSC Ensembl
Innerchr22:49763658..49767169hg38UCSC Ensembl
Outerchr22:49763158..49767669hg38UCSC Ensembl
chr22:50157306..50160817hg19UCSC Ensembl
Innerchr22:50157306..50160817hg19UCSC Ensembl
Outerchr22:50156806..50161317hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383512
hg193512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16457776, essv16457777
SamplesNA18995, NA18747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648070
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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