A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583929



Internal ID6708625
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009925
Supporting Variants
SamplesHuRef
Known GenesATP12A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583929
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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