A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9980988



Internal ID4281566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77771443..77773347hg38UCSC Ensembl
Innerchr1:77771593..77773197hg38UCSC Ensembl
Outerchr1:77771293..77773497hg38UCSC Ensembl
chr1:78237128..78239032hg19UCSC Ensembl
Innerchr1:78237278..78238882hg19UCSC Ensembl
Outerchr1:78236978..78239182hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586529
Supporting Variants
SamplesHG03848
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9980988
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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