A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309157



Internal ID14809420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3051794..3051795hg38UCSC Ensembl
Innerchr4:3051720..3051869hg38UCSC Ensembl
Outerchr4:3051719..3051870hg38UCSC Ensembl
chr4:3053521..3053522hg19UCSC Ensembl
Innerchr4:3053447..3053596hg19UCSC Ensembl
Outerchr4:3053446..3053597hg19UCSC Ensembl
chr4:3023319..3023320hg18UCSC Ensembl
Innerchr4:3023394..3023245hg18UCSC Ensembl
Outerchr4:3023244..3023395hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838980, essv7838082, essv7837554, essv7837858, essv7836817
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309157
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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