A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619358



Internal ID4621174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121739879..121746290hg38UCSC Ensembl
Innerchr12:121739935..121746235hg38UCSC Ensembl
Outerchr12:121739824..121746346hg38UCSC Ensembl
chr12:122177785..122184196hg19UCSC Ensembl
Innerchr12:122177841..122184141hg19UCSC Ensembl
Outerchr12:122177730..122184252hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386412
hg196412
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630957
Supporting Variants
SamplesHG04209
Known GenesTMEM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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