A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450539



Internal ID14950801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12774947..12776345hg38UCSC Ensembl
Innerchr10:12775345..12775947hg38UCSC Ensembl
Outerchr10:12773947..12777345hg38UCSC Ensembl
chr10:12816946..12818344hg19UCSC Ensembl
Innerchr10:12817344..12817946hg19UCSC Ensembl
Outerchr10:12815946..12819344hg19UCSC Ensembl
chr10:12856952..12858350hg18UCSC Ensembl
Innerchr10:12857952..12857350hg18UCSC Ensembl
Outerchr10:12855952..12859350hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv370e59
Supporting Variantsessv8687921
SamplesNA19240
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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