A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306189



Internal ID15153137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118423950..118423951hg38UCSC Ensembl
Innerchr10:118423922..118423979hg38UCSC Ensembl
Outerchr10:118423921..118423980hg38UCSC Ensembl
chr10:120183462..120183463hg19UCSC Ensembl
Innerchr10:120183434..120183491hg19UCSC Ensembl
Outerchr10:120183433..120183492hg19UCSC Ensembl
chr10:120173452..120173453hg18UCSC Ensembl
Innerchr10:120173481..120173424hg18UCSC Ensembl
Outerchr10:120173423..120173482hg18UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg382893
hg192893
hg182893
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750403, essv7743710, essv7755281, essv7740612, essv7760762, essv7757975, essv7747324, essv7746317, essv7761030, essv7757394, essv7753435, essv7759462, essv7748131, essv7762322, essv7748296, essv7745040
SamplesNA11829, NA18561, NA18603, NA18504, NA18526, NA07346, NA18558, NA18605, NA18566, NA18573, NA18532, NA19099, NA19257, NA18570, NA18552, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306189
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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