A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659581



Internal ID9579000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121976815..121977829hg38UCSC Ensembl
Outerchr12:121976778..121977879hg38UCSC Ensembl
Innerchr12:122414721..122415735hg19UCSC Ensembl
Outerchr12:122414684..122415785hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6015911
SamplesNA19716
Known GenesWDR66
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659581
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