A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11851624



Internal ID4904965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28640761..28729684hg38UCSC Ensembl
chr5:28640868..28729791hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3888924
hg1988924
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604516
Supporting Variants
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11851624
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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