A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9630348



Internal ID14359581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110786651..110786670hg38UCSC Ensembl
Innerchr6:110786647..110786674hg38UCSC Ensembl
Outerchr6:110786628..110786693hg38UCSC Ensembl
chr6:111107854..111107873hg19UCSC Ensembl
Innerchr6:111107850..111107877hg19UCSC Ensembl
Outerchr6:111107831..111107896hg19UCSC Ensembl
chr6:111214547..111214566hg18UCSC Ensembl
Innerchr6:111214570..111214543hg18UCSC Ensembl
Outerchr6:111214524..111214589hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378392
Supporting Variants
SamplesNA18970
Known GenesCDK19
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9630348
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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