A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431312



Internal ID15278268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31650528..31650541hg38UCSC Ensembl
Innerchr22:31650504..31650565hg38UCSC Ensembl
Outerchr22:31650491..31650578hg38UCSC Ensembl
chr22:32046514..32046527hg19UCSC Ensembl
Innerchr22:32046490..32046551hg19UCSC Ensembl
Outerchr22:32046477..32046564hg19UCSC Ensembl
chr22:30376514..30376527hg18UCSC Ensembl
Innerchr22:30376551..30376490hg18UCSC Ensembl
Outerchr22:30376477..30376564hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866247
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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