A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5700747



Internal ID8678150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40267331..40267640hg38UCSC Ensembl
chr1:40733003..40733312hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658928
Supporting Variants
SamplesHG00731
Known GenesZMPSTE24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5700747
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