A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11705041



Internal ID4559138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172971370..172991574hg38UCSC Ensembl
chr4:173892521..173912725hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3820205
hg1920205
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603205
Supporting Variants
SamplesHG04061
Known GenesGALNTL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11705041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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