A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287091



Internal ID5362038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194903245..194946443hg38UCSC Ensembl
Innerchr3:194903245..194946443hg38UCSC Ensembl
Outerchr3:194902745..194946943hg38UCSC Ensembl
chr3:194623974..194667172hg19UCSC Ensembl
Innerchr3:194623974..194667172hg19UCSC Ensembl
Outerchr3:194623474..194667672hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3843199
hg1943199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599221
Supporting Variants
SamplesNA18909
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287091
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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