A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3912e59



Internal ID20130661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103380569..103382167hg38UCSC Ensembl
chr7:103021016..103022614hg19UCSC Ensembl
chr7:102808252..102809850hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3401578, esv3430749
SamplesNA19238, NA19239
Known GenesSLC26A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3912e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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