A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926485



Internal ID5445300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46801845..46802312hg38UCSC Ensembl
Innerchr1:46801895..46802262hg38UCSC Ensembl
Outerchr1:46801795..46802362hg38UCSC Ensembl
chr1:47267517..47267984hg19UCSC Ensembl
Innerchr1:47267567..47267934hg19UCSC Ensembl
Outerchr1:47267467..47268034hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585940
Supporting Variants
SamplesNA18963
Known GenesCYP4B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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