A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3990582



Internal ID11424605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518534..197518857hg38UCSC Ensembl
chr3:197245405..197245728hg19UCSC Ensembl
chr3:198729802..198730125hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1448451
Supporting Variants
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3990582
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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