A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11141265



Internal ID1377096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128953297..128956491hg38UCSC Ensembl
Innerchr3:128953797..128955991hg38UCSC Ensembl
Outerchr3:128952297..128957491hg38UCSC Ensembl
chr3:128672140..128675334hg19UCSC Ensembl
Innerchr3:128672640..128674834hg19UCSC Ensembl
Outerchr3:128671140..128676334hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg383195
hg193195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597729
Supporting Variants
SamplesHG01248
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11141265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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