A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303459



Internal ID14803721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30461547..30461548hg38UCSC Ensembl
Innerchr10:30461363..30461732hg38UCSC Ensembl
Outerchr10:30461362..30461733hg38UCSC Ensembl
chr10:30750476..30750477hg19UCSC Ensembl
Innerchr10:30750292..30750661hg19UCSC Ensembl
Outerchr10:30750291..30750662hg19UCSC Ensembl
chr10:30790482..30790483hg18UCSC Ensembl
Innerchr10:30790667..30790298hg18UCSC Ensembl
Outerchr10:30790297..30790668hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg383676
hg193676
hg183676
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754464, essv7747612, essv7754153, essv7761242
SamplesNA07357, NA19005, NA18940, NA18853
Known GenesMAP3K8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303459
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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