A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11190130



Internal ID1141601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154520456..154526036hg38UCSC Ensembl
Innerchr3:154520480..154526012hg38UCSC Ensembl
Outerchr3:154520432..154526060hg38UCSC Ensembl
chr3:154238245..154243825hg19UCSC Ensembl
Innerchr3:154238269..154243801hg19UCSC Ensembl
Outerchr3:154238221..154243849hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg385581
hg195581
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598252
Supporting Variants
SamplesHG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11190130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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