A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6093560



Internal ID9813696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129663990..129666814hg38UCSC Ensembl
chr4:130585145..130587969hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382825
hg192825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677960
Supporting Variants
SamplesNA19920
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6093560
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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