A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4041441



Internal ID11373747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518398..197518506hg38UCSC Ensembl
chr3:197245269..197245377hg19UCSC Ensembl
chr3:198729666..198729774hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1436400
Supporting Variants
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4041441
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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