A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479978



Internal ID3710328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50941889..50950565hg38UCSC Ensembl
Innerchr12:50941911..50950544hg38UCSC Ensembl
Outerchr12:50941868..50950587hg38UCSC Ensembl
chr12:51335672..51344348hg19UCSC Ensembl
Innerchr12:51335694..51344327hg19UCSC Ensembl
Outerchr12:51335651..51344370hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388677
hg198677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629494
Supporting Variants
SamplesHG03311
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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