A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14515186



Internal ID4517002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65912626..65919136hg38UCSC Ensembl
Innerchr12:65912639..65919124hg38UCSC Ensembl
Outerchr12:65912614..65919149hg38UCSC Ensembl
chr12:66306406..66312916hg19UCSC Ensembl
Innerchr12:66306419..66312904hg19UCSC Ensembl
Outerchr12:66306394..66312929hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg386511
hg196511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629793
Supporting Variants
SamplesHG02082
Known GenesHMGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14515186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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