A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565192



Internal ID6689888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864294..8865271hg38UCSC Ensembl
Outerchr12:9016890..9017867hg19UCSC Ensembl
Outerchr12:8908157..8909134hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38978
hg19978
hg18978
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002966
Supporting Variants
SamplesHuRef
Known GenesA2ML1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565192
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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