A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88e59



Internal ID22761308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53094492..53102090hg38UCSC Ensembl
chr1:53560164..53567762hg19UCSC Ensembl
chr1:53332752..53340350hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387599
hg197599
hg187599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3443519, esv3387342
SamplesNA19239, NA19240
Known GenesSLC1A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv88e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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