A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10939145



Internal ID3406568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17147443..17151210hg38UCSC Ensembl
Innerchr3:17147593..17151060hg38UCSC Ensembl
Outerchr3:17147293..17151360hg38UCSC Ensembl
chr3:17188935..17192702hg19UCSC Ensembl
Innerchr3:17189085..17192552hg19UCSC Ensembl
Outerchr3:17188785..17192852hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383768
hg193768
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595414
Supporting Variants
SamplesHG03052
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10939145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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