A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10228691



Internal ID4976391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189735347..189814226hg38UCSC Ensembl
Innerchr1:189735362..189814211hg38UCSC Ensembl
Outerchr1:189735332..189814241hg38UCSC Ensembl
chr1:189704477..189783356hg19UCSC Ensembl
Innerchr1:189704492..189783341hg19UCSC Ensembl
Outerchr1:189704462..189783371hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3878880
hg1978880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588274
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10228691
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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