A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3791908



Internal ID11969963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48427810..48427969hg38UCSC Ensembl
chr13:49001946..49002105hg19UCSC Ensembl
chr13:47899947..47900106hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38160
hg19160
hg18160
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1248194
Supporting Variants
SamplesHuRef
Known GenesLPAR6, RB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3791908
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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