A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5741543



Internal ID8718946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:23930426..23993032hg38UCSC Ensembl
Outerchr1:23930055..23993402hg38UCSC Ensembl
Innerchr1:24256916..24319522hg19UCSC Ensembl
Outerchr1:24256545..24319892hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3863348
hg1963348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676255
Supporting Variants
SamplesHG01188
Known GenesPNRC2, SRSF10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5741543
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