A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11178259



Internal ID1022743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148249651..148251185hg38UCSC Ensembl
Innerchr3:148249697..148251139hg38UCSC Ensembl
Outerchr3:148249605..148251231hg38UCSC Ensembl
chr3:147967438..147968972hg19UCSC Ensembl
Innerchr3:147967484..147968926hg19UCSC Ensembl
Outerchr3:147967392..147969018hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381535
hg191535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598128
Supporting Variants
SamplesHG00640
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11178259
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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