A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993685



Internal ID6729642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122525791..122526119hg38UCSC Ensembl
chr12:123010338..123010666hg19UCSC Ensembl
chr12:121576291..121576619hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571560
SamplesHuRef
Known GenesRSRC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993685
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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