A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448499



Internal ID14948762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47005751..47005770hg38UCSC Ensembl
Innerchr4:47005747..47005774hg38UCSC Ensembl
Outerchr4:47005728..47005793hg38UCSC Ensembl
chr4:47007768..47007787hg19UCSC Ensembl
Innerchr4:47007764..47007791hg19UCSC Ensembl
Outerchr4:47007745..47007810hg19UCSC Ensembl
chr4:46702525..46702544hg18UCSC Ensembl
Innerchr4:46702548..46702521hg18UCSC Ensembl
Outerchr4:46702502..46702567hg18UCSC Ensembl
Cytoband4p12
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 Variantsessv9615013, essv9615024
SamplesNA11918, NA11894
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448499
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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