A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994770



Internal ID7079305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110677253..110677328hg38UCSC Ensembl
chr13:111329600..111329675hg19UCSC Ensembl
chr13:110127601..110127676hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572185
SamplesHuRef
Known GenesCARS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994770
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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