A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604058



Internal ID510645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110245200..110253978hg38UCSC Ensembl
Innerchr12:110245214..110253965hg38UCSC Ensembl
Outerchr12:110245187..110253992hg38UCSC Ensembl
chr12:110683005..110691783hg19UCSC Ensembl
Innerchr12:110683019..110691770hg19UCSC Ensembl
Outerchr12:110682992..110691797hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg388779
hg198779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630731
Supporting Variants
SamplesHG00182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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