A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426998



Internal ID14927268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12825173..12825173hg38UCSC Ensembl
Innerchr10:12825172..12825174hg38UCSC Ensembl
Outerchr10:12825113..12825223hg38UCSC Ensembl
chr10:12867172..12867172hg19UCSC Ensembl
Innerchr10:12867171..12867173hg19UCSC Ensembl
Outerchr10:12867112..12867222hg19UCSC Ensembl
chr10:12907178..12907178hg18UCSC Ensembl
Innerchr10:12907179..12907177hg18UCSC Ensembl
Outerchr10:12907118..12907228hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809982
SamplesNA12878
Known GenesCAMK1D
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426998
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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