A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11010675



Internal ID477812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50086225..50087292hg38UCSC Ensembl
Innerchr3:50086260..50087258hg38UCSC Ensembl
Outerchr3:50086191..50087327hg38UCSC Ensembl
chr3:50123658..50124725hg19UCSC Ensembl
Innerchr3:50123693..50124691hg19UCSC Ensembl
Outerchr3:50123624..50124760hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596137
Supporting Variants
SamplesHG00157
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11010675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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