A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404931



Internal ID14905207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12615247..12616345hg38UCSC Ensembl
Innerchr10:12615345..12616247hg38UCSC Ensembl
Outerchr10:12614247..12617345hg38UCSC Ensembl
chr10:12657246..12658344hg19UCSC Ensembl
Innerchr10:12657344..12658246hg19UCSC Ensembl
Outerchr10:12656246..12659344hg19UCSC Ensembl
chr10:12697252..12698350hg18UCSC Ensembl
Innerchr10:12698252..12697350hg18UCSC Ensembl
Outerchr10:12696252..12699350hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8687906
SamplesNA19240
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404931
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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