A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647635



Internal ID6687689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33814455..33816723hg38UCSC Ensembl
Innerchr22:33814455..33816723hg38UCSC Ensembl
Outerchr22:33814207..33817010hg38UCSC Ensembl
chr22:34210442..34212710hg19UCSC Ensembl
Innerchr22:34210442..34212710hg19UCSC Ensembl
Outerchr22:34210194..34212997hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382269
hg192269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408902
SamplesNA18548
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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