A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993210



Internal ID6729171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358097..26358428hg38UCSC Ensembl
chr12:26511030..26511361hg19UCSC Ensembl
chr12:26402297..26402628hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583256
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993210
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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