A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10081475



Internal ID83291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116755182..116758740hg38UCSC Ensembl
Innerchr1:116755182..116758740hg38UCSC Ensembl
Outerchr1:116754682..116759240hg38UCSC Ensembl
chr1:117297804..117301362hg19UCSC Ensembl
Innerchr1:117297804..117301362hg19UCSC Ensembl
Outerchr1:117297304..117301862hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587305
Supporting Variants
SamplesHG04185
Known GenesCD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10081475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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