A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10017109



Internal ID717807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92427408..92435803hg38UCSC Ensembl
Innerchr1:92427408..92435803hg38UCSC Ensembl
Outerchr1:92427109..92436132hg38UCSC Ensembl
chr1:92892965..92901360hg19UCSC Ensembl
Innerchr1:92892965..92901360hg19UCSC Ensembl
Outerchr1:92892666..92901689hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388396
hg198396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586809
Supporting Variants
SamplesHG00337
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10017109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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