A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584725



Internal ID6709421
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006653
Supporting Variants
SamplesHuRef
Known GenesSOX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584725
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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