A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5523353



Internal ID9913069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127699123..127702490hg38UCSC Ensembl
Outerchr12:127699086..127702540hg38UCSC Ensembl
Innerchr12:128183668..128187035hg19UCSC Ensembl
Outerchr12:128183631..128187085hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383455
hg193455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677726
Supporting Variants
SamplesNA20809
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5523353
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