A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619357



Internal ID4621173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121732764..121737789hg38UCSC Ensembl
Innerchr12:121732835..121737718hg38UCSC Ensembl
Outerchr12:121732693..121737860hg38UCSC Ensembl
chr12:122170670..122175695hg19UCSC Ensembl
Innerchr12:122170741..122175624hg19UCSC Ensembl
Outerchr12:122170599..122175766hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630956
Supporting Variants
SamplesHG02394
Known GenesTMEM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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