A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11143193



Internal ID3589290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129026308..129035059hg38UCSC Ensembl
Innerchr3:129026314..129035054hg38UCSC Ensembl
Outerchr3:129026303..129035065hg38UCSC Ensembl
chr3:128745151..128753902hg19UCSC Ensembl
Innerchr3:128745157..128753897hg19UCSC Ensembl
Outerchr3:128745146..128753908hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388752
hg198752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597732
Supporting Variants
SamplesHG03172
Known GenesEFCC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11143193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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