A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306889



Internal ID15153837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109578320..109578321hg38UCSC Ensembl
Innerchr5:109578263..109578378hg38UCSC Ensembl
Outerchr5:109578262..109578379hg38UCSC Ensembl
chr5:108914021..108914022hg19UCSC Ensembl
Innerchr5:108913964..108914079hg19UCSC Ensembl
Outerchr5:108913963..108914080hg19UCSC Ensembl
chr5:108941920..108941921hg18UCSC Ensembl
Innerchr5:108941978..108941863hg18UCSC Ensembl
Outerchr5:108941862..108941979hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760482, essv7743314, essv7740371, essv7754714, essv7757500, essv7745130, essv7753429, essv7752940, essv7742749, essv7758769, essv7750807, essv7748783, essv7751673, essv7753862, essv7755118, essv7751132, essv7755372, essv7763180, essv7754451, essv7762047, essv7742941
SamplesNA11995, NA18861, NA18545, NA19005, NA18916, NA12287, NA18964, NA18949, NA11831, NA18951, NA18956, NA18948, NA18907, NA19099, NA18523, NA19108, NA18943, NA12749, NA18505, NA19129, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306889
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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