A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14539502



Internal ID5955187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101031..76105692hg38UCSC Ensembl
chr12:76494811..76499472hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630023
Supporting Variants
SamplesNA19375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14539502
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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