A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543243



Internal ID18397633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:24464749..24464928hg38UCSC Ensembl
Outerchr8:24464710..24464967hg38UCSC Ensembl
Innerchr8:24322262..24322441hg19UCSC Ensembl
Outerchr8:24322223..24322480hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741990
Samples
Known GenesADAM7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543243
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