A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11272848



Internal ID1836880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191910943..191965277hg38UCSC Ensembl
Innerchr3:191910943..191965277hg38UCSC Ensembl
Outerchr3:191910443..191965777hg38UCSC Ensembl
chr3:191628732..191683066hg19UCSC Ensembl
Innerchr3:191628732..191683066hg19UCSC Ensembl
Outerchr3:191628232..191683566hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3854335
hg1954335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599128
Supporting Variants
SamplesHG01705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11272848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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