A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647940



Internal ID7034679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46020678..46025129hg38UCSC Ensembl
Innerchr22:46020728..46025079hg38UCSC Ensembl
Outerchr22:46020620..46025187hg38UCSC Ensembl
chr22:46416558..46421009hg19UCSC Ensembl
Innerchr22:46416608..46420959hg19UCSC Ensembl
Outerchr22:46416500..46421067hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384452
hg194452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16444879
SamplesHG00244
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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