A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302969



Internal ID14803231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46426694..46426839hg38UCSC Ensembl
Innerchr10:46426767..46426767hg38UCSC Ensembl
Outerchr10:46426594..46426939hg38UCSC Ensembl
chr10:47122916..47123061hg19UCSC Ensembl
Innerchr10:47122988..47122988hg19UCSC Ensembl
Outerchr10:47122816..47123161hg19UCSC Ensembl
chr10:46542922..46543067hg18UCSC Ensembl
Innerchr10:46542994..46542994hg18UCSC Ensembl
Outerchr10:46542822..46543167hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738172, essv7734811
SamplesNA18608, NA18572
Known GenesLINC00842
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302969
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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