A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10011396



Internal ID3510757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89386657..89412664hg38UCSC Ensembl
chr1:89852216..89878223hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3826008
hg1926008
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586763
Supporting Variants
SamplesHG03112
Known GenesGBP1P1, GBP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10011396
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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