A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304186



Internal ID15151134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110750207..110750208hg38UCSC Ensembl
Innerchr5:110750190..110750225hg38UCSC Ensembl
Outerchr5:110750189..110750226hg38UCSC Ensembl
chr5:110085907..110085908hg19UCSC Ensembl
Innerchr5:110085890..110085925hg19UCSC Ensembl
Outerchr5:110085889..110085926hg19UCSC Ensembl
chr5:110113806..110113807hg18UCSC Ensembl
Innerchr5:110113824..110113789hg18UCSC Ensembl
Outerchr5:110113788..110113825hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7773019, essv7788950, essv7829224, essv7816308, essv7797477, essv7778162, essv7802284, essv7805762, essv7811055, essv7786441, essv7795466, essv7775235, essv7836530, essv7821697, essv7793462, essv7780184, essv7815925, essv7771067, essv7820492, essv7799499, essv7811947, essv7791916, essv7776199, essv7789464, essv7804501, essv7777932, essv7808131, essv7789899, essv7832123, essv7821300, essv7816667, essv7784390, essv7803822, essv7781436
SamplesNA11920, NA12045, NA12751, NA19190, NA18510, NA07357, NA19005, NA18519, NA12812, NA12891, NA18558, NA18916, NA11992, NA18571, NA19138, NA19239, NA18605, NA12878, NA18956, NA19114, NA18856, NA19257, NA19225, NA12716, NA18517, NA18501, NA19093, NA18609, NA19116, NA18552, NA18505, NA19129, NA18511, NA18562
Known GenesSLC25A46
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304186
Frequency
Sample Size185
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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