A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630931



Internal ID6671064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120734778..120750697hg38UCSC Ensembl
Innerchr12:120735278..120750197hg38UCSC Ensembl
Outerchr12:120733778..120751697hg38UCSC Ensembl
chr12:121172581..121188500hg19UCSC Ensembl
Innerchr12:121173081..121188000hg19UCSC Ensembl
Outerchr12:121171581..121189500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815920
hg1915920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618744, essv14618745
SamplesHG02086, HG01840
Known GenesACADS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630931
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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