A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670768



Internal ID13655987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961564..69961941hg38UCSC Ensembl
Innerchr17:69961578..69961925hg38UCSC Ensembl
Outerchr17:69961548..69961955hg38UCSC Ensembl
chr17:67957705..67958082hg19UCSC Ensembl
Innerchr17:67957719..67958066hg19UCSC Ensembl
Outerchr17:67957689..67958096hg19UCSC Ensembl
chr17:65469300..65469677hg18UCSC Ensembl
Innerchr17:65469314..65469661hg18UCSC Ensembl
Outerchr17:65469284..65469691hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3399187
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670768
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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