A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11603636



Internal ID1363727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130537516..130620218hg38UCSC Ensembl
chr4:131458671..131541373hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3882703
hg1982703
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602212
Supporting Variants
SamplesHG01204
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11603636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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