A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199648



Internal ID5832565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160177643..160181983hg38UCSC Ensembl
chr3:159895430..159899770hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384341
hg194341
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598381
Supporting Variants
SamplesNA19207
Known GenesIL12A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199648
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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