A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851223



Internal ID6476516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9544024..9548512hg38UCSC Ensembl
Innerchr1:9544024..9548512hg38UCSC Ensembl
Outerchr1:9543763..9548722hg38UCSC Ensembl
chr1:9604082..9608570hg19UCSC Ensembl
Innerchr1:9604082..9608570hg19UCSC Ensembl
Outerchr1:9603821..9608780hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384489
hg194489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585180
Supporting Variants
SamplesNA19725
Known GenesSLC25A33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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