A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989296



Internal ID6725266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49377268..49379728hg38UCSC Ensembl
chr13:49951404..49953864hg19UCSC Ensembl
chr13:48849405..48851865hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382461
hg192461
hg182461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575871
SamplesHuRef
Known GenesCAB39L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989296
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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