A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3998e59



Internal ID20130747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152401134..152416532hg38UCSC Ensembl
chr7:152098219..152113617hg19UCSC Ensembl
chr7:151729152..151744550hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3815399
hg1915399
hg1815399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3350379, esv3413151, esv3419445, esv3323994, esv3365450
SamplesNA12892, NA19238, NA12891, NA12878, NA19240
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3998e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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