A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631064



Internal ID7017879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126376969..126454930hg38UCSC Ensembl
chr12:126861515..126939476hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3877962
hg1977962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14625839, essv14625838
SamplesNA20289, HG03916
Known GenesLOC100128554
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631064
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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