A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14482334



Internal ID4484150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52029375..52032103hg38UCSC Ensembl
Innerchr12:52029410..52032069hg38UCSC Ensembl
Outerchr12:52029341..52032138hg38UCSC Ensembl
chr12:52423159..52425887hg19UCSC Ensembl
Innerchr12:52423194..52425853hg19UCSC Ensembl
Outerchr12:52423125..52425922hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629512
Supporting Variants
SamplesHG01485
Known GenesNR4A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14482334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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