A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3839882



Internal ID11921989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45681049..45681374hg38UCSC Ensembl
chr18:43261014..43261339hg19UCSC Ensembl
chr18:41515012..41515337hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1524268
Supporting Variants
SamplesHuRef
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3839882
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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