A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345587



Internal ID14845854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635340..6635359hg38UCSC Ensembl
Innerchr17:6635336..6635363hg38UCSC Ensembl
Outerchr17:6635317..6635382hg38UCSC Ensembl
chr17:6538660..6538679hg19UCSC Ensembl
Innerchr17:6538656..6538683hg19UCSC Ensembl
Outerchr17:6538637..6538702hg19UCSC Ensembl
chr17:6479384..6479403hg18UCSC Ensembl
Innerchr17:6479407..6479380hg18UCSC Ensembl
Outerchr17:6479361..6479426hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9672846, essv9672824, essv9672835
SamplesNA11881, NA12249, NA12873
Known GenesKIAA0753
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345587
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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