A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438240



Internal ID15285193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3877589..3877589hg38UCSC Ensembl
Innerchr17:3877588..3877590hg38UCSC Ensembl
Outerchr17:3877539..3877639hg38UCSC Ensembl
chr17:3780883..3780883hg19UCSC Ensembl
Innerchr17:3780882..3780884hg19UCSC Ensembl
Outerchr17:3780833..3780933hg19UCSC Ensembl
chr17:3727632..3727632hg18UCSC Ensembl
Innerchr17:3727633..3727631hg18UCSC Ensembl
Outerchr17:3727582..3727682hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38725
hg19725
hg18725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653163, essv8653166, essv8653165
SamplesNA19238, NA19239, NA19240
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438240
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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