A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618748



Internal ID4620564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120878969..120883158hg38UCSC Ensembl
Innerchr12:120878969..120883158hg38UCSC Ensembl
Outerchr12:120878698..120883434hg38UCSC Ensembl
chr12:121316772..121320961hg19UCSC Ensembl
Innerchr12:121316772..121320961hg19UCSC Ensembl
Outerchr12:121316501..121321237hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384190
hg194190
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630932
Supporting Variants
SamplesHG02330
Known GenesSPPL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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