A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5782721



Internal ID8993815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210549108..210551536hg38UCSC Ensembl
chr1:210722452..210724880hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382429
hg192429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670285
Supporting Variants
SamplesHG00590
Known GenesHHAT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5782721
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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