A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009925



Internal ID6722017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24696414..24696745hg38UCSC Ensembl
chr13:25270552..25270883hg19UCSC Ensembl
chr13:24168552..24168883hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583929
SamplesHuRef
Known GenesATP12A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009925
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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