A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3744321



Internal ID12017549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52675833..52676168hg38UCSC Ensembl
chr3:52709849..52710184hg19UCSC Ensembl
chr3:52684889..52685224hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38336
hg19336
hg18336
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1488186
Supporting Variants
SamplesHuRef
Known GenesPBRM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3744321
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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