A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1467950



Internal ID12284386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297811..212299292hg38UCSC Ensembl
chr1:212471153..212472634hg19UCSC Ensembl
chr1:210537776..210539257hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381482
hg191482
hg181482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4350749
SamplesHuRef
Known GenesPPP2R5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1467950
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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