A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629796



Internal ID6669935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66130674..66161690hg38UCSC Ensembl
chr12:66524454..66555470hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3831017
hg1931017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14515237
SamplesHG03888
Known GenesLLPH, TMBIM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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