A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746325



Internal ID18720571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226004724..226006195hg38UCSC Ensembl
Outerchr1:226004709..226006251hg38UCSC Ensembl
Innerchr1:226192425..226193896hg19UCSC Ensembl
Outerchr1:226192410..226193952hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547578
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746325
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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