A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264979



Internal ID6317935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201586798..201590153hg38UCSC Ensembl
Innerchr1:201586798..201590153hg38UCSC Ensembl
Outerchr1:201586790..201590199hg38UCSC Ensembl
chr1:201555926..201559281hg19UCSC Ensembl
Innerchr1:201555926..201559281hg19UCSC Ensembl
Outerchr1:201555918..201559327hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383356
hg193356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588573
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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