A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653166



Internal ID15029858
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 StatusS
Merged Variantsesv3438240
Supporting Variants
SamplesNA19238
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653166
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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