A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14518692



Internal ID3942575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67121589..67148836hg38UCSC Ensembl
Innerchr12:67121589..67148836hg38UCSC Ensembl
Outerchr12:67121089..67149336hg38UCSC Ensembl
chr12:67515369..67542616hg19UCSC Ensembl
Innerchr12:67515369..67542616hg19UCSC Ensembl
Outerchr12:67514869..67543116hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3827248
hg1927248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629821
Supporting Variants
SamplesHG03595
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14518692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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