A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450764



Internal ID14951026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13649380..13649406hg38UCSC Ensembl
Innerchr10:13649344..13649442hg38UCSC Ensembl
Outerchr10:13649318..13649468hg38UCSC Ensembl
chr10:13691380..13691406hg19UCSC Ensembl
Innerchr10:13691344..13691442hg19UCSC Ensembl
Outerchr10:13691318..13691468hg19UCSC Ensembl
chr10:13731386..13731412hg18UCSC Ensembl
Innerchr10:13731448..13731350hg18UCSC Ensembl
Outerchr10:13731324..13731474hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864994
SamplesNA12005
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450764
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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