A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647549



Internal ID7034289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29892602..29927548hg38UCSC Ensembl
Innerchr22:29892602..29927548hg38UCSC Ensembl
Outerchr22:29892102..29928048hg38UCSC Ensembl
chr22:30288591..30323537hg19UCSC Ensembl
Innerchr22:30288591..30323537hg19UCSC Ensembl
Outerchr22:30288091..30324037hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3834947
hg1934947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401833
SamplesHG01941
Known GenesMTMR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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