A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3996e59



Internal ID20130745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152272034..152290232hg38UCSC Ensembl
chr7:151969119..151987317hg19UCSC Ensembl
chr7:151600052..151618250hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3818199
hg1918199
hg1818199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3434966, esv3383378
SamplesNA19239, NA19240
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3996e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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