A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665990



Internal ID9932095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95376473..95382214hg38UCSC Ensembl
Outerchr12:95376436..95382264hg38UCSC Ensembl
Innerchr12:95770249..95775990hg19UCSC Ensembl
Outerchr12:95770212..95776040hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5699952
SamplesNA18599
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665990
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