A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11135123



Internal ID4853678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127763346..127765280hg38UCSC Ensembl
Innerchr3:127763357..127765270hg38UCSC Ensembl
Outerchr3:127763336..127765291hg38UCSC Ensembl
chr3:127482189..127484123hg19UCSC Ensembl
Innerchr3:127482200..127484113hg19UCSC Ensembl
Outerchr3:127482179..127484134hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597697
Supporting Variants
SamplesNA12273
Known GenesMGLL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11135123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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