A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652169



Internal ID15102129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45568068..45568551hg38UCSC Ensembl
Innerchr22:45568068..45568551hg38UCSC Ensembl
Outerchr22:45568031..45568553hg38UCSC Ensembl
chr22:45963948..45964431hg19UCSC Ensembl
Innerchr22:45963948..45964431hg19UCSC Ensembl
Outerchr22:45963911..45964433hg19UCSC Ensembl
chr22:44342612..44343095hg18UCSC Ensembl
Innerchr22:44342612..44343095hg18UCSC Ensembl
Outerchr22:44342575..44343097hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38484
hg19484
hg18484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384667
Supporting Variants
SamplesNA19240
Known GenesFBLN1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652169
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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