A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305966



Internal ID15152914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174613140..174613141hg38UCSC Ensembl
Innerchr4:174613119..174613162hg38UCSC Ensembl
Outerchr4:174613118..174613163hg38UCSC Ensembl
chr4:175534291..175534292hg19UCSC Ensembl
Innerchr4:175534270..175534313hg19UCSC Ensembl
Outerchr4:175534269..175534314hg19UCSC Ensembl
chr4:175770866..175770867hg18UCSC Ensembl
Innerchr4:175770888..175770845hg18UCSC Ensembl
Outerchr4:175770844..175770889hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7829886, essv7772015, essv7773866, essv7777152, essv7828674, essv7809854, essv7799703, essv7780133, essv7834826, essv7831326, essv7828072, essv7782678
SamplesNA11931, NA12891, NA11918, NA19238, NA19239, NA12872, NA11894, NA11840, NA12043, NA19240, NA12873, NA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305966
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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