A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603714



Internal ID4605530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108904576..108914787hg38UCSC Ensembl
chr12:109298352..109308563hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3810212
hg1910212
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630711
Supporting Variants
SamplesHG01392
Known GenesSVOP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603714
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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