A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609029



Internal ID4032998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114737273..114740323hg38UCSC Ensembl
Innerchr12:114737294..114740303hg38UCSC Ensembl
Outerchr12:114737253..114740344hg38UCSC Ensembl
chr12:115175078..115178128hg19UCSC Ensembl
Innerchr12:115175099..115178108hg19UCSC Ensembl
Outerchr12:115175058..115178149hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383051
hg193051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630820
Supporting Variants
SamplesHG03685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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