A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14351434



Internal ID4353250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208160..8237249hg38UCSC Ensembl
chr12:8360756..8389845hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3829090
hg1929090
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628459
Supporting Variants
SamplesHG01953
Known GenesFAM86FP, FAM90A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14351434
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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