A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11179822



Internal ID1181638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149126696..149130593hg38UCSC Ensembl
Innerchr3:149126734..149130555hg38UCSC Ensembl
Outerchr3:149126658..149130631hg38UCSC Ensembl
chr3:148844483..148848380hg19UCSC Ensembl
Innerchr3:148844521..148848342hg19UCSC Ensembl
Outerchr3:148844445..148848418hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598140
Supporting Variants
SamplesHG01104
Known GenesHPS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11179822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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