A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677110



Internal ID9943215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123446871..123448828hg38UCSC Ensembl
Outerchr12:123446834..123448878hg38UCSC Ensembl
Innerchr12:123931418..123933375hg19UCSC Ensembl
Outerchr12:123931381..123933425hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382045
hg192045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5757678
SamplesHG01197
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677110
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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