A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9853729



Internal ID4647965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11352703..11356694hg38UCSC Ensembl
Innerchr1:11352703..11356694hg38UCSC Ensembl
Outerchr1:11352502..11356898hg38UCSC Ensembl
chr1:11412760..11416751hg19UCSC Ensembl
Innerchr1:11412760..11416751hg19UCSC Ensembl
Outerchr1:11412559..11416955hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383992
hg193992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585220
Supporting Variants
SamplesHG04177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9853729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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