A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412285



Internal ID15259244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25038374..25040472hg38UCSC Ensembl
Innerchr1:25039374..25039472hg38UCSC Ensembl
Outerchr1:25037374..25041472hg38UCSC Ensembl
chr1:25364865..25366963hg19UCSC Ensembl
Innerchr1:25365865..25365963hg19UCSC Ensembl
Outerchr1:25363865..25367963hg19UCSC Ensembl
chr1:25237452..25239550hg18UCSC Ensembl
Innerchr1:25238452..25238550hg18UCSC Ensembl
Outerchr1:25236452..25240550hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692245
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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