A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569849



Internal ID7041231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104452870..104454128hg38UCSC Ensembl
chr12:104846648..104847906hg19UCSC Ensembl
chr12:103370778..103372036hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381259
hg191259
hg181259
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008856
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569849
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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