A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585641



Internal ID6710337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1908698..1908814hg38UCSC Ensembl
chr12:2017864..2017980hg19UCSC Ensembl
chr12:1888125..1888241hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38117
hg19117
hg18117
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994355
Supporting Variants
SamplesHuRef
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585641
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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