A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3997e59



Internal ID20130746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152376034..152385032hg38UCSC Ensembl
chr7:152073119..152082117hg19UCSC Ensembl
chr7:151704052..151713050hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3352282, esv3396635, esv3382287, esv3396771
SamplesNA19239, NA12891, NA12878, NA19240
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3997e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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