A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744291



Internal ID18371851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205884451..205884578hg38UCSC Ensembl
Outerchr1:205884447..205884580hg38UCSC Ensembl
Innerchr1:205853579..205853706hg19UCSC Ensembl
Outerchr1:205853575..205853708hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545544
Supporting Variants
Samples
Known GenesLOC284581
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744291
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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