A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630849



Internal ID6670982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116395173..116434665hg38UCSC Ensembl
chr12:116832978..116872470hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3839493
hg1939493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611003
SamplesHG01991
Known GenesMIR4472-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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