A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11851672



Internal ID4904776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29236616..29428035hg38UCSC Ensembl
chr5:29236723..29428142hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38191420
hg19191420
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604525
Supporting Variants
SamplesNA12717
Known GenesLOC101929681
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11851672
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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