A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10374637



Internal ID4786279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991199..247992286hg38UCSC Ensembl
Innerchr1:247991199..247992286hg38UCSC Ensembl
Outerchr1:247990789..247992591hg38UCSC Ensembl
chr1:248154501..248155588hg19UCSC Ensembl
Innerchr1:248154501..248155588hg19UCSC Ensembl
Outerchr1:248154091..248155893hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589530
Supporting Variants
SamplesNA11918
Known GenesOR2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10374637
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer