A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744758



Internal ID18372318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211289417..211289520hg38UCSC Ensembl
Outerchr1:211289415..211289532hg38UCSC Ensembl
Innerchr1:211462759..211462862hg19UCSC Ensembl
Outerchr1:211462757..211462874hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546011
Supporting Variants
Samples
Known GenesRCOR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744758
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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