A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14458557



Internal ID4878683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41969372..41984777hg38UCSC Ensembl
chr12:42363174..42378579hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3815406
hg1915406
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629319
Supporting Variants
SamplesNA12348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14458557
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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