A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199575



Internal ID4440014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:159935462..159952796hg38UCSC Ensembl
Innerchr3:159935477..159952782hg38UCSC Ensembl
Outerchr3:159935448..159952811hg38UCSC Ensembl
chr3:159653250..159670584hg19UCSC Ensembl
Innerchr3:159653265..159670570hg19UCSC Ensembl
Outerchr3:159653236..159670599hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3817335
hg1917335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598375
Supporting Variants
SamplesHG03949
Known GenesIL12A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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