A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629432



Internal ID7016254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48278450..48307432hg38UCSC Ensembl
chr12:48672233..48701215hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3828983
hg1928983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14475496, essv14475498, essv14475499, essv14475500, essv14475497
SamplesHG00599, NA18635, NA18567, NA18642, NA18544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629432
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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