A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756502



Internal ID18384062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64252730..64256866hg38UCSC Ensembl
Outerchr2:64251867..64257866hg38UCSC Ensembl
Innerchr2:64479864..64484000hg19UCSC Ensembl
Outerchr2:64479001..64485000hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557755
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756502
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