A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9928527



Internal ID1105757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50395417..50411476hg38UCSC Ensembl
Innerchr1:50395567..50411326hg38UCSC Ensembl
Outerchr1:50395267..50411626hg38UCSC Ensembl
chr1:50861089..50877148hg19UCSC Ensembl
Innerchr1:50861239..50876998hg19UCSC Ensembl
Outerchr1:50860939..50877298hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3816060
hg1916060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586012
Supporting Variants
SamplesHG00736
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9928527
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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