A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5435696



Internal ID8856930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46742320..46744987hg38UCSC Ensembl
chr1:47207992..47210659hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382668
hg192668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670620
Supporting Variants
SamplesHG00312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5435696
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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