A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672336



Internal ID9938441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42706674..42708446hg38UCSC Ensembl
Outerchr22:42706637..42708496hg38UCSC Ensembl
Innerchr22:43102680..43104452hg19UCSC Ensembl
Outerchr22:43102643..43104502hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381860
hg191860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487943, essv6336774
SamplesNA20800, NA20521
Known GenesA4GALT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672336
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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