A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932347



Internal ID6557640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54020279..54030392hg38UCSC Ensembl
Innerchr1:54020429..54030242hg38UCSC Ensembl
Outerchr1:54020129..54030542hg38UCSC Ensembl
chr1:54485952..54496065hg19UCSC Ensembl
Innerchr1:54486102..54495915hg19UCSC Ensembl
Outerchr1:54485802..54496215hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3810114
hg1910114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586082
Supporting Variants
SamplesHG02734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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