A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11013776



Internal ID1015592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52832558..52850828hg38UCSC Ensembl
chr3:52866574..52884844hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3818271
hg1918271
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596163
Supporting Variants
SamplesHG02595
Known GenesMIR8064, MUSTN1, TMEM110, TMEM110-MUSTN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11013776
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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