A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431796



Internal ID15278752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124761305..124761324hg38UCSC Ensembl
Innerchr4:124761301..124761328hg38UCSC Ensembl
Outerchr4:124761282..124761347hg38UCSC Ensembl
chr4:125682460..125682479hg19UCSC Ensembl
Innerchr4:125682456..125682483hg19UCSC Ensembl
Outerchr4:125682437..125682502hg19UCSC Ensembl
chr4:125901910..125901929hg18UCSC Ensembl
Innerchr4:125901933..125901906hg18UCSC Ensembl
Outerchr4:125901887..125901952hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9617946
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431796
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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