A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4272948



Internal ID11208800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89196376..89196457hg38UCSC Ensembl
chr16:89262784..89262865hg19UCSC Ensembl
chr16:87790285..87790366hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1613886
Supporting Variants
SamplesHuRef
Known GenesSLC22A31
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4272948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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