A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998846



Internal ID6734778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:551601..552568hg38UCSC Ensembl
Innerchr7:591238..592205hg19UCSC Ensembl
Innerchr7:557764..558731hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38968
hg19968
hg18968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586487
SamplesHuRef
Known GenesPRKAR1B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998846
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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