A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4249863



Internal ID11185715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46464480..46464559hg38UCSC Ensembl
chr13:47038615..47038694hg19UCSC Ensembl
chr13:45936616..45936695hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1089933
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4249863
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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