A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3786e59



Internal ID20130535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44245528..44247226hg38UCSC Ensembl
chr7:44285127..44286825hg19UCSC Ensembl
chr7:44251652..44253350hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3446315, esv3326999
SamplesNA19239, NA19240
Known GenesCAMK2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3786e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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