A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711520



Internal ID3569851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152076678..152124243hg38UCSC Ensembl
chr2:152933192..152980757hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3847566
hg1947566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592929
Supporting Variants
SamplesHG03160
Known GenesCACNB4, STAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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