A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4019804



Internal ID11395382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197517654..197517706hg38UCSC Ensembl
chr3:197244525..197244577hg19UCSC Ensembl
chr3:198728922..198728974hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1013303
Supporting Variants
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4019804
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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