A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239996



Internal ID5786412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193692308..193742799hg38UCSC Ensembl
Innerchr1:193692308..193742799hg38UCSC Ensembl
Outerchr1:193691808..193743299hg38UCSC Ensembl
chr1:193661438..193711929hg19UCSC Ensembl
Innerchr1:193661438..193711929hg19UCSC Ensembl
Outerchr1:193660938..193712429hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3850492
hg1950492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588374
Supporting Variants
SamplesNA19152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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