A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9680857



Internal ID14912330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26601634..26601653hg38UCSC Ensembl
Innerchr22:26601630..26601657hg38UCSC Ensembl
Outerchr22:26601611..26601676hg38UCSC Ensembl
chr22:26997598..26997617hg19UCSC Ensembl
Innerchr22:26997594..26997621hg19UCSC Ensembl
Outerchr22:26997575..26997640hg19UCSC Ensembl
chr22:25327598..25327617hg18UCSC Ensembl
Innerchr22:25327621..25327594hg18UCSC Ensembl
Outerchr22:25327575..25327640hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325854
Supporting Variants
SamplesNA19143
Known GenesCRYBB1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9680857
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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