A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11902097



Internal ID6399572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51739200..51755547hg38UCSC Ensembl
chr5:51035034..51051381hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3816348
hg1916348
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605042
Supporting Variants
SamplesNA20348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11902097
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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