A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14469590



Internal ID3974282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45382822..45395172hg38UCSC Ensembl
chr12:45776605..45788955hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812351
hg1912351
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629384
Supporting Variants
SamplesHG03629
Known GenesANO6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14469590
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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