A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306057



Internal ID15153005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38925483..38925484hg38UCSC Ensembl
Innerchr13:38925466..38925501hg38UCSC Ensembl
Outerchr13:38925465..38925502hg38UCSC Ensembl
chr13:39499620..39499621hg19UCSC Ensembl
Innerchr13:39499603..39499638hg19UCSC Ensembl
Outerchr13:39499602..39499639hg19UCSC Ensembl
chr13:38397620..38397621hg18UCSC Ensembl
Innerchr13:38397638..38397603hg18UCSC Ensembl
Outerchr13:38397602..38397639hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7796365, essv7830073, essv7813123, essv7778109, essv7783362, essv7817522, essv7787972, essv7792636, essv7823842, essv7795818, essv7786927, essv7800271, essv7815645, essv7815705, essv7785595, essv7797756, essv7808360, essv7790479, essv7798450, essv7831848, essv7810258, essv7804736, essv7802597, essv7794288, essv7824372, essv7808759, essv7801348, essv7828662, essv7773143, essv7792149, essv7796541, essv7826852, essv7785746, essv7818700, essv7794712, essv7829605, essv7829103, essv7795433, essv7779582, essv7788436, essv7801007, essv7790285, essv7793449, essv7830641, essv7805732, essv7803505, essv7771114, essv7777116, essv7797909, essv7835934
SamplesNA12717, NA18592, NA10851, NA12414, NA18980, NA18561, NA12045, NA18545, NA19190, NA18526, NA18563, NA18944, NA18940, NA18550, NA18519, NA18942, NA11992, NA18582, NA18571, NA12287, NA19138, NA18964, NA18973, NA12878, NA12234, NA18907, NA19114, NA11919, NA11840, NA18856, NA12892, NA18532, NA19257, NA18570, NA18593, NA18608, NA12716, NA11881, NA18961, NA18564, NA07051, NA18943, NA12874, NA12763, NA06986, NA18609, NA18552, NA07000, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306057
Frequency
Sample Size185
Observed Gain50
Observed Loss0
Observed Complex0
Frequencyn/a


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