A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926609



Internal ID3354666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47673374..47764003hg38UCSC Ensembl
chr1:48139046..48229675hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3890630
hg1990630
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585959
Supporting Variants
SamplesHG03007
Known GenesTRABD2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926609
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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