A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11957291



Internal ID474046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82722039..82745206hg38UCSC Ensembl
chr5:82017858..82041025hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3823168
hg1923168
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605620
Supporting Variants
SamplesHG00154
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11957291
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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