A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346381



Internal ID14846646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635304..6635346hg38UCSC Ensembl
Innerchr17:6635318..6635329hg38UCSC Ensembl
Outerchr17:6635279..6635371hg38UCSC Ensembl
chr17:6538624..6538666hg19UCSC Ensembl
Innerchr17:6538638..6538649hg19UCSC Ensembl
Outerchr17:6538599..6538691hg19UCSC Ensembl
chr17:6479348..6479390hg18UCSC Ensembl
Innerchr17:6479373..6479362hg18UCSC Ensembl
Outerchr17:6479323..6479415hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673462
SamplesNA19238
Known GenesKIAA0753
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346381
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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