A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14441684



Internal ID5909160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33269209..33351478hg38UCSC Ensembl
chr12:33422144..33504413hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3882270
hg1982270
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629105
Supporting Variants
SamplesNA19321
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14441684
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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