A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11249972



Internal ID4220166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180483631..180487216hg38UCSC Ensembl
Innerchr3:180484131..180486716hg38UCSC Ensembl
Outerchr3:180482631..180488216hg38UCSC Ensembl
chr3:180201419..180205004hg19UCSC Ensembl
Innerchr3:180201919..180204504hg19UCSC Ensembl
Outerchr3:180200419..180206004hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383586
hg193586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598868
Supporting Variants
SamplesHG03796
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11249972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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