A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997258



Internal ID7081228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29641691..29647711hg38UCSC Ensembl
chr13:30215828..30221848hg19UCSC Ensembl
chr13:29113828..29119848hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386021
hg196021
hg186021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39e180
Supporting Variantsessv3574751
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997258
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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