A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307696



Internal ID15154644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10422719..10422720hg38UCSC Ensembl
Innerchr5:10422687..10422752hg38UCSC Ensembl
Outerchr5:10422686..10422753hg38UCSC Ensembl
chr5:10422831..10422832hg19UCSC Ensembl
Innerchr5:10422799..10422864hg19UCSC Ensembl
Outerchr5:10422798..10422865hg19UCSC Ensembl
chr5:10475831..10475832hg18UCSC Ensembl
Innerchr5:10475864..10475799hg18UCSC Ensembl
Outerchr5:10475798..10475865hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749301, essv7754150, essv7752816, essv7747838, essv7761476, essv7745435, essv7750415, essv7753552, essv7746966, essv7744718, essv7750249, essv7763279, essv7746541, essv7742510, essv7752268, essv7741384, essv7755837, essv7756432
SamplesNA19190, NA18960, NA18520, NA19239, NA18871, NA18907, NA19114, NA18499, NA18856, NA18912, NA18853, NA19099, NA19257, NA19225, NA18858, NA19147, NA19102, NA18505
Known GenesMARCH6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307696
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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