A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3995e59



Internal ID20130744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152259034..152292632hg38UCSC Ensembl
chr7:151956119..151989717hg19UCSC Ensembl
chr7:151587052..151620650hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3833599
hg1933599
hg1833599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3410360, esv3335484
SamplesNA12878, NA12892
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3995e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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