A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11445991



Internal ID837138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59528463..59588770hg38UCSC Ensembl
chr4:60394181..60454488hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3860308
hg1960308
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600646
Supporting Variants
SamplesHG00428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11445991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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