A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998521



Internal ID6734453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3326031..3326089hg38UCSC Ensembl
chr1:3242595..3242653hg19UCSC Ensembl
chr1:3232455..3232513hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584219
SamplesHuRef
Known GenesPRDM16
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998521
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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