A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310549



Internal ID14810814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74732928..74734496hg38UCSC Ensembl
Outerchr17:74732928..74734496hg38UCSC Ensembl
Innerchr17:72729067..72730635hg19UCSC Ensembl
Outerchr17:72729067..72730635hg19UCSC Ensembl
Innerchr17:70242230..70240662hg18UCSC Ensembl
Outerchr17:70240662..70242230hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381093
hg191093
hg181093
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843543
SamplesNA19240
Known GenesRAB37
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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