A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11873069



Internal ID4905351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39795671..39899899hg38UCSC Ensembl
chr5:39795773..39900001hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38104229
hg19104229
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604798
Supporting Variants
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11873069
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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