A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447001



Internal ID14947265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46542073..46556271hg38UCSC Ensembl
Innerchr10:46543073..46555271hg38UCSC Ensembl
Outerchr10:46541073..46557271hg38UCSC Ensembl
chr10:46993346..47007544hg19UCSC Ensembl
Innerchr10:46994346..47006544hg19UCSC Ensembl
Outerchr10:46992346..47008544hg19UCSC Ensembl
chr10:46413352..46427550hg18UCSC Ensembl
Innerchr10:46414352..46426550hg18UCSC Ensembl
Outerchr10:46412352..46428550hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3814199
hg1914199
hg1814199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv412e59
Supporting Variantsessv8688069
SamplesNA19238
Known GenesGPRIN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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