A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629447



Internal ID6669587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49099548..49107982hg38UCSC Ensembl
Innerchr12:49099583..49107947hg38UCSC Ensembl
Outerchr12:49099513..49108017hg38UCSC Ensembl
chr12:49493331..49501765hg19UCSC Ensembl
Innerchr12:49493366..49501730hg19UCSC Ensembl
Outerchr12:49493296..49501800hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388435
hg198435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14476863
SamplesHG01600
Known GenesLMBR1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer