A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3692596



Internal ID12069274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140549205..140550618hg38UCSC Ensembl
chr3:140268047..140269460hg19UCSC Ensembl
chr3:141750737..141752150hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381414
hg191414
hg181414
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1479020
Supporting Variants
SamplesHuRef
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3692596
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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