A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474224



Internal ID4476040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46634827..46639526hg38UCSC Ensembl
chr12:47028610..47033309hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629405
Supporting Variants
SamplesHG00698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474224
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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