A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387254



Internal ID15234223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:831922..831941hg38UCSC Ensembl
Innerchr17:831918..831945hg38UCSC Ensembl
Outerchr17:831899..831964hg38UCSC Ensembl
chr17:735162..735181hg19UCSC Ensembl
Innerchr17:735158..735185hg19UCSC Ensembl
Outerchr17:735139..735204hg19UCSC Ensembl
chr17:681912..681931hg18UCSC Ensembl
Innerchr17:681935..681908hg18UCSC Ensembl
Outerchr17:681889..681954hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9672791, essv9672802
SamplesNA19141, NA12873
Known GenesNXN
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387254
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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