A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629494



Internal ID7016316
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479977, essv14479978
SamplesHG02816, HG03311
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629494
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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