A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410970



Internal ID14911244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77356171..77356710hg38UCSC Ensembl
Innerchr17:77356171..77356710hg38UCSC Ensembl
Outerchr17:77356008..77356894hg38UCSC Ensembl
chr17:75352253..75352792hg19UCSC Ensembl
Innerchr17:75352253..75352792hg19UCSC Ensembl
Outerchr17:75352090..75352976hg19UCSC Ensembl
chr17:72863848..72864387hg18UCSC Ensembl
Innerchr17:72863848..72864387hg18UCSC Ensembl
Outerchr17:72863685..72864571hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38540
hg19540
hg18540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651972
SamplesNA19240
Known GenesSEPT9
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410970
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