A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439195



Internal ID14939462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51303335..51303343hg38UCSC Ensembl
Innerchr10:51303327..51303349hg38UCSC Ensembl
Outerchr10:51303319..51303359hg38UCSC Ensembl
chr10:53063095..53063103hg19UCSC Ensembl
Innerchr10:53063087..53063109hg19UCSC Ensembl
Outerchr10:53063079..53063119hg19UCSC Ensembl
chr10:52733101..52733109hg18UCSC Ensembl
Innerchr10:52733115..52733093hg18UCSC Ensembl
Outerchr10:52733085..52733125hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381578
hg191578
hg181578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671813, essv8671814
SamplesNA19238, NA19240
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439195
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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