A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1684e59



Internal ID22762904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174409..7176907hg38UCSC Ensembl
chr17:7077728..7080226hg19UCSC Ensembl
chr17:7018452..7020950hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3388860, esv3323676, esv3414551, esv3365933
SamplesNA12891, NA19238, NA19239, NA19240
Known GenesASGR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1684e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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