A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10999048



Internal ID5343831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46564331..46565247hg38UCSC Ensembl
Innerchr3:46564381..46565197hg38UCSC Ensembl
Outerchr3:46564208..46565370hg38UCSC Ensembl
chr3:46605821..46606737hg19UCSC Ensembl
Innerchr3:46605871..46606687hg19UCSC Ensembl
Outerchr3:46605698..46606860hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596063
Supporting Variants
SamplesNA18877
Known GenesLRRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10999048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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