A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843543



Internal ID14737671
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 StatusS
Merged Variantsesv3310549
Supporting Variants
SamplesNA19240
Known GenesRAB37
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843543
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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