A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618508



Internal ID4620324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120477981..120480951hg38UCSC Ensembl
Innerchr12:120478020..120480913hg38UCSC Ensembl
Outerchr12:120477943..120480990hg38UCSC Ensembl
chr12:120915784..120918754hg19UCSC Ensembl
Innerchr12:120915823..120918716hg19UCSC Ensembl
Outerchr12:120915746..120918793hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630925
Supporting Variants
SamplesHG01842
Known GenesDYNLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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