A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1683e59



Internal ID22762903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174409..7176207hg38UCSC Ensembl
chr17:7077728..7079526hg19UCSC Ensembl
chr17:7018452..7020250hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3447810, esv3349198
SamplesNA12878, NA12892
Known GenesASGR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1683e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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