A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401271



Internal ID1963373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18837709..18850871hg38UCSC Ensembl
Innerchr12:18837709..18850871hg38UCSC Ensembl
Outerchr12:18837608..18850990hg38UCSC Ensembl
chr12:18990643..19003805hg19UCSC Ensembl
Innerchr12:18990643..19003805hg19UCSC Ensembl
Outerchr12:18990542..19003924hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3813163
hg1913163
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628744
Supporting Variants
SamplesHG01813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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