A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990359



Internal ID6726326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297796..212299276hg38UCSC Ensembl
chr1:212471138..212472618hg19UCSC Ensembl
chr1:210537761..210539241hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381481
hg191481
hg181481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573051
SamplesHuRef
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990359
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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