A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413470



Internal ID14913743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12774847..12776745hg38UCSC Ensembl
Innerchr10:12775745..12775847hg38UCSC Ensembl
Outerchr10:12773847..12777745hg38UCSC Ensembl
chr10:12816846..12818744hg19UCSC Ensembl
Innerchr10:12817744..12817846hg19UCSC Ensembl
Outerchr10:12815846..12819744hg19UCSC Ensembl
chr10:12856852..12858750hg18UCSC Ensembl
Innerchr10:12857852..12857750hg18UCSC Ensembl
Outerchr10:12855852..12859750hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8687917
SamplesNA19239
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413470
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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