A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588927



Internal ID6976343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221551295..221555375hg38UCSC Ensembl
Innerchr1:221551295..221555375hg38UCSC Ensembl
Outerchr1:221551096..221555496hg38UCSC Ensembl
chr1:221724637..221728717hg19UCSC Ensembl
Innerchr1:221724637..221728717hg19UCSC Ensembl
Outerchr1:221724438..221728838hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384081
hg194081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10299839
SamplesHG03668
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588927
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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