A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958934



Internal ID2227259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67499461..67501212hg38UCSC Ensembl
Innerchr1:67499478..67501195hg38UCSC Ensembl
Outerchr1:67499444..67501229hg38UCSC Ensembl
chr1:67965144..67966895hg19UCSC Ensembl
Innerchr1:67965161..67966878hg19UCSC Ensembl
Outerchr1:67965127..67966912hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381752
hg191752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586307
Supporting Variants
SamplesHG02003
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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