A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9847702



Internal ID2303896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8223858..8229480hg38UCSC Ensembl
Innerchr1:8223890..8229449hg38UCSC Ensembl
Outerchr1:8223827..8229512hg38UCSC Ensembl
chr1:8283918..8289540hg19UCSC Ensembl
Innerchr1:8283950..8289509hg19UCSC Ensembl
Outerchr1:8283887..8289572hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg385623
hg195623
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585143
Supporting Variants
SamplesHG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9847702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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