A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564549



Internal ID6689245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27280407..27281554hg38UCSC Ensembl
Outerchr12:27433340..27434487hg19UCSC Ensembl
Outerchr12:27324607..27325754hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381148
hg191148
hg181148
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997751
Supporting Variants
SamplesHuRef
Known GenesSTK38L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564549
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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