A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11922094



Internal ID596141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414325..60479881hg38UCSC Ensembl
chr5:59710152..59775708hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3865557
hg1965557
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605187
Supporting Variants
SamplesHG00260
Known GenesPDE4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11922094
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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