A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1756e59



Internal ID22762976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41375874..41383072hg38UCSC Ensembl
chr17:39532126..39539324hg19UCSC Ensembl
chr17:36785652..36792850hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387199
hg197199
hg187199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3430336, esv3327073
SamplesNA19239, NA19240
Known GenesKRT34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1756e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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