A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432390



Internal ID15279346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55554802..55554821hg38UCSC Ensembl
Innerchr4:55554798..55554825hg38UCSC Ensembl
Outerchr4:55554779..55554844hg38UCSC Ensembl
chr4:56420969..56420988hg19UCSC Ensembl
Innerchr4:56420965..56420992hg19UCSC Ensembl
Outerchr4:56420946..56421011hg19UCSC Ensembl
chr4:56115726..56115745hg18UCSC Ensembl
Innerchr4:56115749..56115722hg18UCSC Ensembl
Outerchr4:56115703..56115768hg18UCSC Ensembl
Cytoband4q12
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 Variantsessv9615301
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432390
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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