A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427466



Internal ID14927736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70845647..70845666hg38UCSC Ensembl
Innerchr10:70845643..70845670hg38UCSC Ensembl
Outerchr10:70845624..70845689hg38UCSC Ensembl
chr10:72605404..72605423hg19UCSC Ensembl
Innerchr10:72605400..72605427hg19UCSC Ensembl
Outerchr10:72605381..72605446hg19UCSC Ensembl
chr10:72275410..72275429hg18UCSC Ensembl
Innerchr10:72275433..72275406hg18UCSC Ensembl
Outerchr10:72275387..72275452hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9648447, essv9648424, essv9648458, essv9648435
SamplesNA12043, NA12815, NA11931, NA12873
Known GenesSGPL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427466
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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