A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239911



Internal ID657157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192904459..192926936hg38UCSC Ensembl
Innerchr1:192904459..192926936hg38UCSC Ensembl
Outerchr1:192903959..192927436hg38UCSC Ensembl
chr1:192873589..192896066hg19UCSC Ensembl
Innerchr1:192873589..192896066hg19UCSC Ensembl
Outerchr1:192873089..192896566hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3822478
hg1922478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588363
Supporting Variants
SamplesHG00304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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