A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629424



Internal ID4631240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127897320..128034186hg38UCSC Ensembl
chr12:128381865..128518731hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38136867
hg19136867
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631127
Supporting Variants
SamplesNA20828
Known GenesFLJ37505, LINC00507
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629424
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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