A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14385206



Internal ID4955676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11982200..11994428hg38UCSC Ensembl
chr12:12135134..12147362hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812229
hg1912229
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628597
Supporting Variants
SamplesNA12828
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14385206
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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