A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384466



Internal ID15231436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26202311..26202311hg38UCSC Ensembl
Innerchr4:26202310..26202312hg38UCSC Ensembl
Outerchr4:26202261..26202361hg38UCSC Ensembl
chr4:26203933..26203933hg19UCSC Ensembl
Innerchr4:26203932..26203934hg19UCSC Ensembl
Outerchr4:26203883..26203983hg19UCSC Ensembl
chr4:25813031..25813031hg18UCSC Ensembl
Innerchr4:25813032..25813030hg18UCSC Ensembl
Outerchr4:25812981..25813081hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701449
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384466
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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