A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604064



Internal ID4084673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110590305..110598506hg38UCSC Ensembl
Innerchr12:110590319..110598492hg38UCSC Ensembl
Outerchr12:110590291..110598520hg38UCSC Ensembl
chr12:111028110..111036311hg19UCSC Ensembl
Innerchr12:111028124..111036297hg19UCSC Ensembl
Outerchr12:111028096..111036325hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg388202
hg198202
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630735
Supporting Variants
SamplesHG03713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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