A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606247



Internal ID603063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112747366..112753541hg38UCSC Ensembl
Innerchr12:112747399..112753509hg38UCSC Ensembl
Outerchr12:112747334..112753574hg38UCSC Ensembl
chr12:113185171..113191346hg19UCSC Ensembl
Innerchr12:113185204..113191314hg19UCSC Ensembl
Outerchr12:113185139..113191379hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630786
Supporting Variants
SamplesHG00263
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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