A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891070



Internal ID19185466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202500595..202558893hg38UCSC Ensembl
Outerchr1:202500595..202558893hg38UCSC Ensembl
Innerchr1:202469723..202528021hg19UCSC Ensembl
Outerchr1:202469723..202528021hg19UCSC Ensembl
Innerchr1:200736346..200794644hg18UCSC Ensembl
Outerchr1:200736346..200794644hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3858299
hg1958299
hg1858299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799791
Samples
Known GenesPPP1R12B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891070
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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