A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5442081



Internal ID8419484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51248373..51254630hg38UCSC Ensembl
chr1:51714045..51720302hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386258
hg196258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663443
Supporting Variants
SamplesHG01070
Known GenesRNF11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5442081
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