A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022003



Internal ID2023819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111674439..111747485hg38UCSC Ensembl
chr5:111010136..111083182hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3873047
hg1973047
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606277
Supporting Variants
SamplesNA20803
Known GenesNREP, STARD4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022003
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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