A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543289



Internal ID18397679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180323890..180324172hg38UCSC Ensembl
Outerchr1:180323825..180324211hg38UCSC Ensembl
Innerchr1:180293025..180293307hg19UCSC Ensembl
Outerchr1:180292960..180293346hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e215
Supporting Variantsessv9742036
Samples
Known GenesACBD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543289
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