A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543467



Internal ID18744543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182982891..182983117hg38UCSC Ensembl
Outerchr1:182982863..182983174hg38UCSC Ensembl
Innerchr1:182952026..182952252hg19UCSC Ensembl
Outerchr1:182951998..182952309hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e215
Supporting Variantsessv9742214
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543467
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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