A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30e59



Internal ID22761250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5664605..5677103hg38UCSC Ensembl
chr1:5724665..5737163hg19UCSC Ensembl
chr1:5647252..5659750hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3812499
hg1912499
hg1812499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3435601, esv3345322, esv3391008, esv3335908, esv3335249, esv3346737
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv30e59
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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