A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308774



Internal ID14809037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635312..6635313hg38UCSC Ensembl
Innerchr17:6635267..6635358hg38UCSC Ensembl
Outerchr17:6635266..6635359hg38UCSC Ensembl
chr17:6538632..6538633hg19UCSC Ensembl
Innerchr17:6538587..6538678hg19UCSC Ensembl
Outerchr17:6538586..6538679hg19UCSC Ensembl
chr17:6479356..6479357hg18UCSC Ensembl
Innerchr17:6479402..6479311hg18UCSC Ensembl
Outerchr17:6479310..6479403hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838934
SamplesNA19238
Known GenesKIAA0753
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308774
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