A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006312



Internal ID6718430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946569..95949177hg38UCSC Ensembl
chr12:96340347..96342955hg19UCSC Ensembl
chr12:94864478..94867086hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382609
hg192609
hg182609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv34e180
Supporting Variantsessv3582808
SamplesHuRef
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006312
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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