A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001094



Internal ID26797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:151820603..151820652hg38UCSC Ensembl
chr7:151517689..151517738hg19UCSC Ensembl
chr7:151148622..151148671hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573745
SamplesHuRef
Known GenesPRKAG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001094
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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