A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10282312



Internal ID5663461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209681456..209683396hg38UCSC Ensembl
Innerchr1:209681465..209683387hg38UCSC Ensembl
Outerchr1:209681447..209683405hg38UCSC Ensembl
chr1:209854801..209856741hg19UCSC Ensembl
Innerchr1:209854810..209856732hg19UCSC Ensembl
Outerchr1:209854792..209856750hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381941
hg191941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588707
Supporting Variants
SamplesNA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10282312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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