A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443126



Internal ID14943393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77484175..77485373hg38UCSC Ensembl
Innerchr17:77484373..77485175hg38UCSC Ensembl
Outerchr17:77483175..77486373hg38UCSC Ensembl
chr17:75480257..75481455hg19UCSC Ensembl
Innerchr17:75480455..75481257hg19UCSC Ensembl
Outerchr17:75479257..75482455hg19UCSC Ensembl
chr17:72991852..72993050hg18UCSC Ensembl
Innerchr17:72992852..72992050hg18UCSC Ensembl
Outerchr17:72990852..72994050hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691029
SamplesNA19239
Known GenesSEPT9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443126
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer