A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478796



Internal ID4457429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50171477..50172652hg38UCSC Ensembl
Innerchr12:50171543..50172587hg38UCSC Ensembl
Outerchr12:50171412..50172718hg38UCSC Ensembl
chr12:50565260..50566435hg19UCSC Ensembl
Innerchr12:50565326..50566370hg19UCSC Ensembl
Outerchr12:50565195..50566501hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381176
hg191176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629474
Supporting Variants
SamplesHG03965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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