A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564451



Internal ID6689147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946182..95949181hg38UCSC Ensembl
Outerchr12:96339960..96342959hg19UCSC Ensembl
Outerchr12:94864091..94867090hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383000
hg193000
hg183000
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992407
Supporting Variants
SamplesHuRef
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564451
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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