A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6132403



Internal ID8932772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50160136..50165216hg38UCSC Ensembl
Outerchr12:50160099..50165266hg38UCSC Ensembl
Innerchr12:50553919..50558999hg19UCSC Ensembl
Outerchr12:50553882..50559049hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385168
hg195168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674859
Supporting Variants
SamplesHG00443
Known GenesCERS5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6132403
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