A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9673879



Internal ID14911710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45741579..45741598hg38UCSC Ensembl
Innerchr17:45741575..45741602hg38UCSC Ensembl
Outerchr17:45741556..45741621hg38UCSC Ensembl
chr17:43818945..43818964hg19UCSC Ensembl
Innerchr17:43818941..43818968hg19UCSC Ensembl
Outerchr17:43818922..43818987hg19UCSC Ensembl
chr17:41174716..41174735hg18UCSC Ensembl
Innerchr17:41174739..41174712hg18UCSC Ensembl
Outerchr17:41174693..41174758hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416082
Supporting Variants
SamplesNA19143
Known GenesCRHR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9673879
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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