A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1457683



Internal ID12620806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64366339..64366582hg38UCSC Ensembl
chr12:64760119..64760362hg19UCSC Ensembl
chr12:63046386..63046629hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3652840
SamplesHuRef
Known GenesC12orf56
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1457683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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