A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335605



Internal ID14835878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222679276..222679295hg38UCSC Ensembl
Innerchr1:222679272..222679299hg38UCSC Ensembl
Outerchr1:222679253..222679318hg38UCSC Ensembl
chr1:222852618..222852637hg19UCSC Ensembl
Innerchr1:222852614..222852641hg19UCSC Ensembl
Outerchr1:222852595..222852660hg19UCSC Ensembl
chr1:220919241..220919260hg18UCSC Ensembl
Innerchr1:220919264..220919237hg18UCSC Ensembl
Outerchr1:220919218..220919283hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598280
SamplesNA12815
Known GenesAIDA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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