A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621417



Internal ID4623233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122293591..122294306hg38UCSC Ensembl
Innerchr12:122293641..122294256hg38UCSC Ensembl
Outerchr12:122293541..122294356hg38UCSC Ensembl
chr12:122778138..122778853hg19UCSC Ensembl
Innerchr12:122778188..122778803hg19UCSC Ensembl
Outerchr12:122778088..122778903hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630974
Supporting Variants
SamplesHG00881
Known GenesCLIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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