A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630708



Internal ID6670842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108624808..108626331hg38UCSC Ensembl
Innerchr12:108624808..108626331hg38UCSC Ensembl
Outerchr12:108624757..108626436hg38UCSC Ensembl
chr12:109018584..109020107hg19UCSC Ensembl
Innerchr12:109018584..109020107hg19UCSC Ensembl
Outerchr12:109018533..109020212hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14603707, essv14603706
SamplesHG03790, HG03741
Known GenesSELPLG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630708
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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