A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11199563



Internal ID3349565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:159735046..159736035hg38UCSC Ensembl
Innerchr3:159735079..159736003hg38UCSC Ensembl
Outerchr3:159735014..159736068hg38UCSC Ensembl
chr3:159452835..159453824hg19UCSC Ensembl
Innerchr3:159452868..159453792hg19UCSC Ensembl
Outerchr3:159452803..159453857hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38990
hg19990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598371
Supporting Variants
SamplesHG02983
Known GenesIQCJ-SCHIP1, SCHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11199563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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