A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006653



Internal ID7071746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23786587..23787153hg38UCSC Ensembl
chr12:23939521..23940087hg19UCSC Ensembl
chr12:23830788..23831354hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38567
hg19567
hg18567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584725
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006653
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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