A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647790



Internal ID7034529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41170747..41171695hg38UCSC Ensembl
Innerchr22:41170797..41171645hg38UCSC Ensembl
Outerchr22:41170651..41171791hg38UCSC Ensembl
chr22:41566751..41567699hg19UCSC Ensembl
Innerchr22:41566801..41567649hg19UCSC Ensembl
Outerchr22:41566655..41567795hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430098
SamplesHG02652
Known GenesEP300
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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