A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652154



Internal ID15102035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17369106..17370501hg38UCSC Ensembl
Innerchr22:17369106..17370501hg38UCSC Ensembl
Outerchr22:17368938..17370572hg38UCSC Ensembl
chr22:17850005..17850442hg19UCSC Ensembl
Innerchr22:17850005..17850442hg19UCSC Ensembl
Outerchr22:17849837..17850513hg19UCSC Ensembl
chr22:16230005..16230442hg18UCSC Ensembl
Innerchr22:16230005..16230442hg18UCSC Ensembl
Outerchr22:16229837..16230513hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg381396
hg19438
hg18438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366021
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652154
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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